ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830507200
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514223
ClinVar RCV Id:
RCV001054285
RCV001697928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Ala3391Val
CA4924731
NM_201384.3:c.10172C>T