Canonical Allele Identifier: PA2826151570
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 1208422
ClinVar RCV Id: RCV001576748 RCV002568491
ClinVar Variation Id: 1687701
ClinVar RCV Id: RCV002251675 RCV003094100 RCV003971211
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171896.1:p.Gly448Arg
CA2490690
NM_001184967.2:c.1342G>A
CA2490691
NM_001184967.2:c.1342G>C