Allele Registry

Canonical Allele Identifier: PA2829651329

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000523994

RCV001148363

RCV001148364

RCV003114651

ClinVar Variation:

451477

HGVS (amino-acid)	Matching Registered Transcripts
NP_006713.1:p.Asn378Ser	CA2490582 NM_006722.2:c.1133A>G