Allele Registry

Canonical Allele Identifier: PA2830431414

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000273610

RCV000356640

RCV002520181

RCV004021928

ClinVar Variation:

346497

HGVS (amino-acid)	Matching Registered Transcripts
NP_937801.1:p.Pro295Ala	CA2490626 NM_198158.3:c.883C>G