Allele Registry

Canonical Allele Identifier: PA2827882074

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000273610

RCV000356640

RCV002520181

RCV004021928

ClinVar Variation:

346497

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341535.1:p.Pro401Ala	CA2490626 NM_001354606.2:c.1201C>G