Canonical Allele Identifier: PA2826252765
Gene: PMEL HGNC NCBI

Linked Data

ClinVar Variation Id: 3215794
ClinVar RCV Id: RCV004509590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001186982.1:p.Gln543His
CA385214774
NM_001200053.1:c.1629G>T
CA385214775
NM_001200053.1:c.1629G>C