Allele Registry

Canonical Allele Identifier: PA2829651127

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000659860

RCV003767913

RCV003983159

ClinVar Variation:

547529

HGVS (amino-acid)	Matching Registered Transcripts
NP_006713.1:p.Met222Ile	CA77000890 NM_006722.2:c.666G>A CA353561017 NM_006722.2:c.666G>C CA353561018 NM_006722.2:c.666G>T