Allele Registry

Canonical Allele Identifier: PA2830431858

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000424648

RCV003766333

ClinVar Variation:

387380

HGVS (amino-acid)	Matching Registered Transcripts
NP_937802.1:p.Glu314Gln	CA16605010 NM_198159.3:c.940G>C