Canonical Allele Identifier: PA2827328837
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 637820
ClinVar RCV Id: RCV000790144

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317072.1:p.Gly100Arg
CA398267436
NM_001330143.2:c.298G>A
CA398267437
NM_001330143.2:c.298G>C