ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830503572
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
846699
ClinVar RCV Id:
RCV001050067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg4466Gln
CA4923821
NM_201383.3:c.13397G>A