ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830497192
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426994
ClinVar RCV Id:
RCV000556369
RCV000727773
RCV002526039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Glu2681Lys
CA4925442
NM_201382.4:c.8041G>A