Canonical Allele Identifier: PA2830323428
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 637381
ClinVar RCV Id: RCV000789523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696996.1:p.Leu147Arg
CA398739522
NM_153321.3:c.440T>G