Canonical Allele Identifier: PA2580343349
Gene: CEP250 HGNC NCBI

Linked Data

ClinVar Variation Id: 2252783
ClinVar RCV Id: RCV004113994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009117.2:p.Val19Leu
CA408751285
NM_007186.6:c.55G>C
CA408751287
NM_007186.6:c.55G>T