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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.[Pro295dup;Gly297_Gln305delinsAsnThrAlaGlnHisGlyAsnSerThr;Thr307_Thr311delinsProAspGlyGln;Ile313His;Gln315_Asp316delinsArgLeu;Thr318_Arg320delinsGlyLys;Ile322Val;Asp324_Thr329delinsCysSer;Pro331_Leu333del]
CA2586966876
ENST00000536513.5:c.886_911del