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Canonical Allele Identifier: Get Identifier
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000402577.2:p.[Pro94_Ile95insSerArgLeu;Gln96delinsThrArg;Asn98_Gly101delinsGlnGluSerAspIle;Gly103_Ile104delinsSerSer;Asn107_Arg110delinsProTrpProAla;Pro112_Ala114delinsThr;Cys116_Phe118delinsPro;Ile120_Tyr123delinsAlaPro]
CA30896512
ENST00000427500.7:c.279del