ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825114597
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
994920
ClinVar RCV Id:
RCV001288682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Gly133Asp
CA398739636
NM_000304.4:c.398G>A