ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830491291
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282493
ClinVar RCV Id:
RCV000527679
RCV000725097
RCV002518856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Glu1587Lys
CA4926521
NM_201381.3:c.4759G>A