Allele Registry

Canonical Allele Identifier: PA2830433567

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000273610

RCV000356640

RCV002520181

RCV004021928

ClinVar Variation:

346497

HGVS (amino-acid)	Matching Registered Transcripts
NP_937821.2:p.Pro239Ala	CA2490626 NM_198178.3:c.715C>G