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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502161.1:p.[Glu2176del;Lys2178_Val2179del;Glu2181_Ile2197del;Glu2200_Gly2202delinsArg;Lys2204_Trp2205del]
CA2620104161
ENST00000675476.1:c.6527del