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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.[Ala662_Val675delinsGlyMetAspLeuLeuCysLeuHisAspCysGluGluHisArg;Glu677_Lys678delinsGly;Leu680_Lys683delinsGlyValAlaThr;Thr685delinsGlyAsp;Lys687_Gln689delinsGluLysSer;Val691Cys]
CA645372172
ENST00000649773.1:c.1984dup