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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000374665.3:p.[Thr485_Phe487delinsHisCysLeu;Asp489_Asn492delinsArgLeuHisGln;Thr494_Met502delinsHisSerProGlyLeu;Ala504_Phe506delinsGlyGly;Asp508_Asp513delinsGly]
CA775514379
ENST00000390015.7:c.1452dup