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Canonical Allele Identifier: Get Identifier
Gene: ABCA4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000439707.2:p.[Leu419_Ser421delinsArgSerAla;Leu423_Arg432delinsSerMetTrpProThrThrProSerTyrGlyPro;Ser434Cys;Pro436_Ser440delinsArgThrGlyAla;Glu442_Val448delinsArgSerMetGluSerProSer]
CA957434
ENST00000536513.5:c.1256del