ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658660088
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448090
ClinVar RCV Id:
RCV000517551
RCV000799700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Ala113Val
CA8403319
NM_000304.4:c.338C>T