Canonical Allele Identifier: PA2826623505
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 2045631
ClinVar RCV Id: RCV002908780

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268384.1:p.Trp124Arg
CA8403313
NM_001281455.2:c.370T>A
CA288864492
NM_001281455.2:c.370T>C