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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502298.1:p.[Leu1861_Gln1878delinsTyr;Lys1880_Glu1885delinsAla;Gln1887_Gly1890delinsPro]
CA915946672
ENST00000675408.1:c.5580del
CA2620104654
ENST00000675408.1:c.5582del