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Synonyms:	EYE COLOR 1; EYE COLOR, GREEN/BLUE; SHEP3; SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR; SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING; Skin/hair/eye pigmentation, variation in, 3

Gene (location): Gene(s) directly associated with this condition or phenotype.	TYR (11q14.3)

OMIM®:	601800

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C2677190[conceptid] (1)
MedGen
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN

MedGen
"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "SM... (1)
"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "SMARCA2"[gene]
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ClinVar
Taxonomy Links for Protein (Select 1479550917) (1)
Taxonomy
Homo sapiens isolate CHM13 chromosome 11, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 11, alternate assembly T2T-CHM13v2.0
gi|2194973393|gnl|ASM:GCF_009914825 ef|NC_060935.1||gpp|GPC_000012750.1||gnl|NCBI_GENOMES|119571

Nucleotide

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