Canonical Allele Identifier: PA2827041016
Gene: PMEL HGNC NCBI

Linked Data

ClinVar Variation Id: 3215793
ClinVar RCV Id: RCV004509589
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307051.1:p.Arg576His
CA6619822
NM_001320122.1:c.1727G>A