ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830495764
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283695
ClinVar RCV Id:
RCV000364557
RCV001061859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Arg1490Gln
CA4926649
NM_201382.4:c.4469G>A