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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000308021.7:p.[Lys1647Arg;Val1649_Glu1654delinsTyrHisLysIleTrp;Gln1656_Leu1662delinsAsp;Val1664_Lys1665del;Phe1667_Ile1670del;Leu1672_Gln1673delinsSer;Gln1675_Glu1676delinsAsn]
CA2620107599
ENST00000309041.11:c.4940del