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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000374665.3:p.[Thr832_Ser836delinsAsnHis;Gln838_Gln839delinsValPro;Met841Ala;Leu843_Lys849delinsHisGlyProGlyCysGlyProAspGln;Gly850_Gly851insTrp;Glu852_Ala853delinsGlyPro;Glu856_Gly862delinsAlaValLeuGlyArgTrp]
CA16041907
ENST00000390015.7:c.2495_2496del