Canonical Allele Identifier: PA2830323162
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8433
ClinVar RCV Id: RCV000008948 RCV000489163 RCV000456500 RCV000622525 RCV001729342
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696996.1:p.Ser72Leu
CA119620
NM_153321.3:c.215C>T