ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830487235
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391777
ClinVar RCV Id:
RCV000725675
RCV000797131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala3657Val
CA4924452
NM_201379.3:c.10970C>T