Canonical Allele Identifier: PA2830433086
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 29792
ClinVar RCV Id: RCV000022661 RCV000129682 RCV000222278 RCV000627790 RCV000484916 RCV001195106 RCV002247378 RCV001535706 RCV002490402
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_937820.1:p.Glu403Lys
CA128649
NM_198177.3:c.1207G>A