ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830499634
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448055
ClinVar RCV Id:
RCV000516810
RCV000871807
RCV002255424
RCV002527511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ile718Val
CA4927642
NM_201383.3:c.2152A>G