ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA110240
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245805
ClinVar RCV Id:
RCV000236879
RCV000790159
RCV001209293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Gly150Asp
CA10584542
NM_000304.4:c.449G>A