ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830494849
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403326
ClinVar RCV Id:
RCV000454865
RCV001051305
RCV001584123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Arg559Gln
CA4927900
NM_201382.4:c.1676G>A