Allele Registry

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Canonical Allele Identifier: PA2499251874

Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 1208422

ClinVar RCV Id: RCV001576748 RCV002568491

ClinVar Variation Id: 1687701

ClinVar RCV Id: RCV002251675 RCV003094100 RCV003971211

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341533.1:p.Gly506Arg	CA2490690 NM_001354604.2:c.1516G>A CA2490691 NM_001354604.2:c.1516G>C