Canonical Allele Identifier: PA1139729192
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 900478
ClinVar RCV Id: RCV001145711 RCV001145712 RCV002557119 RCV003130165 RCV003963084
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341533.1:p.Gly506Glu
CA2490692
NM_001354604.2:c.1517G>A