Canonical Allele Identifier: PA2829651401
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 29792
ClinVar RCV Id: RCV000022661 RCV000129682 RCV000222278 RCV000627790 RCV000484916 RCV001195106 RCV002247378 RCV001535706 RCV002490402
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006713.1:p.Glu418Lys
CA128649
NM_006722.2:c.1252G>A