Canonical Allele Identifier: PA2826623554
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8444
ClinVar RCV Id: RCV000008957 RCV000193053 RCV000778488 RCV001332355 RCV001173916 RCV001229968
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268384.1:p.Arg157Trp
CA119628
NM_001281455.2:c.469C>T