ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830502679
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000560530
RCV000594196
RCV002527964
ClinVar Variation:
478584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg3504His
CA4924629
NM_201383.3:c.10511G>A