ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501391
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000602515
RCV000712755
RCV001860323
ClinVar Variation:
514859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg2286Gln
CA4925830
NM_201383.3:c.6857G>A