ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830486127
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514221
ClinVar RCV Id:
RCV000606327
RCV002531612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Glu2617Gln
CA372521170
NM_201379.3:c.7849G>C