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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000458306.1:p.[Met172_Ile183delinsArgTrpArgLeuArgThrAlaSerThrSerArgSer;Asp185_Val193delinsIleGlnLeuThrGlyAlaThrArgCys;Leu195_His201delinsTrpArgProArgMetSerThr]
CA2640276230
ENST00000577106.5:c.515del