ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830500689
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281701
ClinVar RCV Id:
RCV000724944
RCV001082726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala1747Thr
CA4926400
NM_201383.3:c.5239G>A