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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.[Pro253_Gln255delinsAlaLeuAlaVal;Ile257_Leu264delinsHisArgProArgArgAlaProGln;Leu267_Arg281delinsAspAlaGlnHisGlnLeuAspGlnAspHisProValGluProGly]
CA658824779
ENST00000570803.5:c.755dup