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Canonical Allele Identifier: Get Identifier
Gene: ABCA4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496882.1:p.[Trp589_Gly592delinsGlyIleLeuVal;Arg594_Asp596delinsGluLeuIle;Val598_Gly606delinsTrpLysIleSerGlyThrSerGlyAla;Phe608_Gln617delinsLeuProIleCysArgThrTrpLeuAsnArg]
CA913189327
ENST00000649773.1:c.1765del