Canonical Allele Identifier: PA2827041004
Gene: PMEL HGNC NCBI

Linked Data

ClinVar Variation Id: 2406682
ClinVar RCV Id: RCV004239855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307051.1:p.Thr379Arg
CA6620044
NM_001320122.1:c.1136C>G