ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830496556
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471629
ClinVar RCV Id:
RCV000543341
RCV000727828
RCV001335327
RCV004543192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Glu2115Lys
CA4926031
NM_201382.4:c.6343G>A