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Canonical Allele Identifier: Get Identifier
Gene: ABCA4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.[Leu1627_Ser1629delinsArgSerAla;Leu1631_Arg1640delinsSerMetTrpProThrThrProSerTyrGlyPro;Ser1642Cys;Pro1644_Ser1648delinsArgThrGlyAla;Glu1650_Val1656delinsArgSerMetGluSerProSer]
CA957434
NM_000350.3:c.4880del