ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830502137
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448080
ClinVar RCV Id:
RCV000517970
RCV000558676
RCV000727764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg3012Gln
CA4925105
NM_201383.3:c.9035G>A