Allele Registry

Canonical Allele Identifier: PA2830432679

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000659860

RCV003767913

RCV003983159

ClinVar Variation:

547529

HGVS (amino-acid)	Matching Registered Transcripts
NP_937820.1:p.Met207Ile	CA77000890 NM_198177.3:c.621G>A CA353561017 NM_198177.3:c.621G>C CA353561018 NM_198177.3:c.621G>T