ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827374056
Gene: CEP83
HGNC
NCBI
Linked Data
ClinVar Variation Id:
139544
ClinVar RCV Id:
RCV000128443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333388.1:p.Arg407Pro
CA163253
NM_001346459.2:c.1220G>C