Allele Registry

Canonical Allele Identifier: PA2829651405

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000277062

RCV000325041

RCV000615223

RCV000883708

RCV002255371

RCV002520183

RCV003922521

ClinVar Variation:

346499

HGVS (amino-acid)	Matching Registered Transcripts
NP_006713.1:p.Val420Ala	CA2490635 NM_006722.2:c.1259T>C