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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460543.1:p.[Ala14_Ala17delinsArgProArgVal;Val19_Ala22delinsGlyAsnArgCys;Ala24_Leu27delinsPro;His29_Leu32delinsAla;Asp34_Val38delinsProThr;Arg40_Ser45del]
CA913184761
ENST00000570803.5:c.40_47del