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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000305692.3:p.[Trp498_Gly514delinsCysGlyArgThrTrpTrpLeuSerSer;Trp516_Glu521delinsThrArgCys;Asn524_Gly528delinsThrAlaCysGlyLeuThr]
CA2695200355
ENST00000302262.8:c.1494del