ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828278066
Gene: CEP83
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392913
ClinVar RCV Id:
RCV000417742
RCV001034799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354966.1:p.Arg441Gly
CA6721683
NM_001368037.1:c.1321A>G