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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.[Pro541_Pro545delinsThrLeuArgAlaTrp;Val547_Val548delinsGlyTrp;Gly550_Ile557delinsAspProProGlyGlyHisHisLeu;Ala559_Phe564delinsLeuGlnProProValSer;Ser566His;His568_Asn570delinsLeuGlnPro]
CA2831038988
ENST00000390015.7:c.1621_1622del