ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812029
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_958782.1:p.Arg2419Gln
CA4925830
NM_201380.4:c.7256G>A