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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502559.1:p.[Leu2117_Gln2134delinsTyr;Lys2136_Glu2141delinsAla;Gln2143_Gly2146delinsPro]
CA915946672
ENST00000675833.1:c.6348del
CA2620104654
ENST00000675833.1:c.6350del