Canonical Allele Identifier: PA110362
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 234605
ClinVar RCV Id: RCV000213954 RCV000790160
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000295.1:p.Ser149Arg
CA10577555
NM_000304.4:c.447C>A
CA398739503
NM_000304.4:c.447C>G
CA398739509
NM_000304.4:c.445A>C