Canonical Allele Identifier: PA658660090
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 448091
ClinVar RCV Id: RCV000518626 RCV000658337 RCV001851451
ClinVar Variation Id: 637842
ClinVar RCV Id: RCV000790173 RCV001064771 RCV002269313 RCV003483723
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000295.1:p.Trp140Arg
CA398739582
NM_000304.4:c.418T>C
CA398739583
NM_000304.4:c.418T>A