Allele Registry

Canonical Allele Identifier: PA2830431187

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000659860

RCV003767913

RCV003983159

ClinVar Variation:

547529

HGVS (amino-acid)	Matching Registered Transcripts
NP_937801.1:p.Met116Ile	CA77000890 NM_198158.3:c.348G>A CA353561017 NM_198158.3:c.348G>C CA353561018 NM_198158.3:c.348G>T