ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826623522
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
382636
ClinVar RCV Id:
RCV001082490
RCV000712773
RCV001128284
RCV002356551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268384.1:p.Ala135Thr
CA8403306
NM_001281455.2:c.403G>A