Canonical Allele Identifier: PA2573254147
Gene: CEP250 HGNC NCBI

Linked Data

ClinVar Variation Id: 1474424
ClinVar RCV Id: RCV001971259 RCV004042259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009117.2:p.Arg67Gln
CA9832532
NM_007186.6:c.200G>A