ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830499362
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287387
ClinVar RCV Id:
RCV000263573
RCV001088725
RCV004543102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala432Val
CA4928029
NM_201383.3:c.1295C>T