ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830506211
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000553900
RCV000727708
ClinVar Variation:
471647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg2457Pro
CA4925672
NM_201384.3:c.7370G>C