Canonical Allele Identifier: PA916054994
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8445
ClinVar RCV Id: RCV000008958 RCV000008959
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696997.1:p.Ser22Phe
CA254390
NM_153322.3:c.65C>T