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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.[Leu278_Asp282delinsCysGlyThrGlyThr;Ala284Arg;Thr286Arg;Gly288_Tyr292delinsValArgThrSerThr;Ser294_Gly304delinsLeuThrLeuSerThrTrpArgTrpArgThrAla;Ser306_Ala307delinsArgHis]
CA2695227071
NM_000152.5:c.832del