Canonical Allele Identifier: PA2573254151
Gene: CEP250 HGNC NCBI

Linked Data

ClinVar Variation Id: 1498868
ClinVar RCV Id: RCV002010311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009117.2:p.Pro83Leu
CA9832571
NM_007186.6:c.248C>T