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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000446905.1:p.[Lys705Arg;Val707_Glu712delinsTyrHisLysIleTrp;Gln714_Leu720delinsAsp;Val722_Lys723del;Phe725_Ile728del;Leu730_Gln731delinsSer;Gln733_Glu734delinsAsn]
CA2620107599
ENST00000547691.6:c.2114del