Canonical Allele Identifier: PA2830433069
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 14277
ClinVar RCV Id: RCV000015347 RCV001541066 RCV002513060 RCV003974827 RCV002281708
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_937820.1:p.Ser383Pro
CA123838
NM_198177.3:c.1147T>C