ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2742035384
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2948506
ClinVar RCV Id:
RCV003809280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Arg2058Gln
CA4926248
NM_201380.4:c.6173G>A