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: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502194.1:p.[Ala1603_Asp1605del;Met1607_Phe1620delinsGly;Arg1622_Glu1632del]
CA2620108466
ENST00000674971.1:c.4807del