Allele Registry

Canonical Allele Identifier: PA645451245

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000416286

RCV000416300

ClinVar Variation:

375215

HGVS (amino-acid)	Matching Registered Transcripts
NP_937802.1:p.Lys307Asn	CA16044010 NM_198159.3:c.921G>C CA353561637 NM_198159.3:c.921G>T