Canonical Allele Identifier: PA2826252797
Gene: PMEL HGNC NCBI

Linked Data

ClinVar Variation Id: 3215794
ClinVar RCV Id: RCV004509590

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001186983.1:p.Gln636His
CA385214774
NM_001200054.1:c.1908G>T
CA385214775
NM_001200054.1:c.1908G>C