Allele Registry

Canonical Allele Identifier: PA2830431753

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000659860

RCV003767913

RCV003983159

ClinVar Variation:

547529

HGVS (amino-acid)	Matching Registered Transcripts
NP_937802.1:p.Met223Ile	CA77000890 NM_198159.3:c.669G>A CA353561017 NM_198159.3:c.669G>C CA353561018 NM_198159.3:c.669G>T