Canonical Allele Identifier: PA2830323371
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 2045631
ClinVar RCV Id: RCV002908780
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696996.1:p.Trp124Arg
CA8403313
NM_153321.3:c.370T>A
CA288864492
NM_153321.3:c.370T>C