Allele Registry

Canonical Allele Identifier: PA916057509

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000659860

RCV003767913

RCV003983159

ClinVar Variation:

547529

HGVS (amino-acid)	Matching Registered Transcripts
NP_937821.2:p.Met60Ile	CA77000890 NM_198178.3:c.180G>A CA353561017 NM_198178.3:c.180G>C CA353561018 NM_198178.3:c.180G>T