ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA243972
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196748
ClinVar RCV Id:
RCV000545545
RCV000724193
RCV003987424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg1679Gln
CA243966
NM_201383.3:c.5036G>A