ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243888
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196736
ClinVar RCV Id:
RCV000415901
RCV001088471
RCV001199099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg1345His
CA243885
NM_201378.4:c.4034G>A