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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.[Leu2148_Gln2165delinsTyr;Lys2167_Glu2172delinsAla;Gln2174_Gly2177delinsPro]
CA915946672
ENST00000675476.1:c.6441del
CA2620104654
ENST00000675476.1:c.6443del