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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.[Thr403_Asn413delinsMetLysThrThrLeuArgCysGlyLeuIleThr;Gly415_Ser421delinsAlaGlyMetProTrpSerAla;Leu423_Arg432delinsSerMetTrpProThrThrProSerTyrGly]
CA2586964148
ENST00000536513.5:c.1208del