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Canonical Allele Identifier: Get Identifier
Gene: ATM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000388058.2:p.[Val2284_Gly2287delinsLeuAla;Ser2289del;Trp2291_Gln2292delinsSer;Glu2294_Phe2299delinsSerGlySer;Ala2301Lys;Lys2303_Gln2305delinsHisLysTyr;Leu2307_Leu2309delinsGlyGlnLysArg;Ile2311delinsArgVal;Lys2313Pro]
CA10579238
ENST00000452508.7:c.6850del