Allele Registry

Canonical Allele Identifier: PA2829651378

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000273610

RCV000356640

RCV002520181

RCV004021928

ClinVar Variation:

346497

HGVS (amino-acid)	Matching Registered Transcripts
NP_006713.1:p.Pro401Ala	CA2490626 NM_006722.2:c.1201C>G