Canonical Allele Identifier: PA2825114586
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 637835
ClinVar RCV Id: RCV000790165 RCV001873226 RCV003325975
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000295.1:p.Ser131Cys
CA398739650
NM_000304.4:c.392C>G