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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502503.1:p.[Leu1854_Gln1871delinsTyr;Lys1873_Glu1878delinsAla;Gln1880_Gly1883delinsPro]
CA915946672
ENST00000675230.1:c.5559del
CA2620104654
ENST00000675230.1:c.5561del