Canonical Allele Identifier: PA2741933879
Gene: PMEL HGNC NCBI

Linked Data

ClinVar Variation Id: 2569247
ClinVar RCV Id: RCV004332853

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008859.1:p.Thr401Ile
CA385216964
NM_006928.5:c.1202C>T