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Canonical Allele Identifier: Get Identifier
Gene: ABCA4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000359245.3:p.[Ile2231_Tyr2234delinsMetArg;Val2236del;Thr2239_Gln2252delinsSerHisArgProHisTrp;Glu2254_Asp2257delinsArgCys;Leu2260_Pro2262del]
CA2586967020
ENST00000370225.4:c.6693del