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Canonical Allele Identifier: Get Identifier
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.[Ser81Tyr;Arg83_Met92delinsGlnTrpAlaThrAspGlyAlaGluTyr;Pro94_Gln96del;Asn98del;Thr100Pro;Thr102_Pro110del]
CA526434134
NM_000157.4:c.241_242del