ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830507312
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478584
ClinVar RCV Id:
RCV000560530
RCV000594196
RCV002527964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg3500His
CA4924629
NM_201384.3:c.10499G>A