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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.[Thr833_Ser836delinsAsnHis;Gln838_Gln839delinsValPro;Met841Ala;Leu843_Lys849delinsHisGlyProGlyCysGlyProAspGln;Gly850_Gly851insTrp;Glu852_Ala853delinsGlyPro;Glu856_Gly862delinsAlaValLeuGlyArgTrp]
CA2810585966
NM_001079803.3:c.2497dup