ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830507119
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497016
ClinVar RCV Id:
RCV000592614
RCV001088888
RCV004527670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg3309His
CA4924812
NM_201384.3:c.9926G>A