ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830490251
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
523207
ClinVar RCV:
RCV000648457
RCV001288678
RCV002530502
ClinVar Variation:
538916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg555Gln
CA4927862
NM_201381.3:c.1664G>A