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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.[Ser1016_Tyr1026delinsProGlnGlyGlnProAlaHisArgGlyValLeu;Val1028His;Gln1030_Thr1031delinsAspHis;Leu1033_Gln1035delinsGlyProGly;Phe1037_Asn1039delinsCysLys;Ala1041_Thr1045delinsCys]
CA915941320
ENST00000536513.5:c.3046_3047del