Canonical Allele Identifier: PA2828278726
Gene: CEP83 HGNC NCBI
ClinVar RCV:
RCV000128443
ClinVar Variation:
139544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001354968.1:p.Arg407Pro
CA163253
NM_001368039.1:c.1220G>C