ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825173659
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283695
ClinVar RCV Id:
RCV000364557
RCV001061859
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg1517Gln
CA4926649
NM_000445.4:c.4550G>A