ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830483479
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514366
ClinVar RCV Id:
RCV000600621
RCV000874701
RCV001289148
RCV003162735
RCV004533231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg1074Cys
CA4927136
NM_201379.3:c.3220C>T