Allele Registry

Canonical Allele Identifier: PA916038011

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000416286

RCV000416300

ClinVar Variation:

375215

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341533.1:p.Lys313Asn	CA16044010 NM_001354604.2:c.939G>C CA353561637 NM_001354604.2:c.939G>T