ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825174673
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514859
ClinVar RCV Id:
RCV000602515
RCV000712755
RCV001860323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg2309Gln
CA4925830
NM_000445.4:c.6926G>A