Canonical Allele Identifier: PA2830323326
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 637370
ClinVar RCV Id: RCV000789511
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696996.1:p.Ser112Arg
CA398739800
NM_153321.3:c.336T>G
CA398739802
NM_153321.3:c.336T>A
CA398739808
NM_153321.3:c.334A>C