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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.[Thr286Arg;Gly288_Tyr292delinsValArgThrSerThr;Ser294_Tyr298delinsLeuThr;Ala300_Ser306delinsSerThrTrpArgTrpArgThr;His308del;Val310_Asn314delinsArgHisThrGlyCys;Ser315_Asn316insCys]
CA2739268463
NM_001079803.3:c.856del