Allele Registry

Canonical Allele Identifier: PA2827881988

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000424648

RCV003766333

ClinVar Variation:

387380

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341535.1:p.Glu313Gln	CA16605010 NM_001354606.2:c.937G>C