ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830483106
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497072
ClinVar RCV Id:
RCV000597334
RCV001088460
RCV004543310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Gly824Ser
CA4927486
NM_201379.3:c.2470G>A