This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CEP250 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000380661.1:p.Glu414Asp
CA9832867
ENST00000397527.5:c.1242G>C
CA408760923
ENST00000397527.5:c.1242G>T