Allele Registry

Canonical Allele Identifier: PA2827882274

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000283175

RCV000405002

RCV000977275

RCV002257652

RCV002520179

ClinVar Variation:

346495

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341536.1:p.His198Leu	CA2490409 NM_001354607.2:c.593A>T