ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828278912
Gene: CEP83
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381892
ClinVar RCV Id:
RCV001035539
RCV000434526
RCV003983042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354969.1:p.Asp269Val
CA6721749
NM_001368040.1:c.806A>T