ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830493818
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502241
ClinVar RCV Id:
RCV000597968
RCV000809164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg3849His
CA4924279
NM_201381.3:c.11546G>A