ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830505629
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284101
ClinVar RCV Id:
RCV000342524
RCV000648497
RCV001808730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Val1990Met
CA4926163
NM_201384.3:c.5968G>A