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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.[Pro482_Phe487delinsValHisCysLeu;Asp489_Asn492delinsArgLeuHisGln;Thr494_Met502delinsHisSerProGlyLeu;Ala504_Phe506delinsGlyGly;Asp508_Phe512delinsGlyGly]
CA2695227092
ENST00000572080.2:c.1444_1448del