ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA244321
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196824
ClinVar RCV Id:
RCV000177695
RCV001083840
RCV000724010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Glu4064Lys
CA244316
NM_201384.3:c.12190G>A