Canonical Allele Identifier: PA916055032
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 215728
ClinVar RCV Id: RCV000762229 RCV001172746 RCV001087677
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696997.1:p.His51Arg
CA337251
NM_153322.3:c.152A>G