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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000459972.2:p.[Tyr378_Ser380del;Ala382_Thr392delinsProProProLeuSerProAla;Ala394_Gln401delinsTrp;Asn403_Tyr407delinsArgThr]
CA2640286093
ENST00000572080.2:c.1132del