ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830491736
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499219
ClinVar RCV Id:
RCV000593349
RCV001860181
RCV004024759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg1949Gln
CA4926177
NM_201381.3:c.5846G>A