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Canonical Allele Identifier: Get Identifier
Gene: ARSA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011528992.1:p.[Ser275Thr;Leu277_Leu279delinsAlaAla;Thr281_Ser284delinsHisArgGlnGlu;Arg286_Gln287delinsSerAlaVal;Phe290_Tyr292delinsLeuLeu;Ser294_Tyr295delinsValLeu;Asp297_Val302delinsArgArgGlyProTrpGly;Ala304_Val305delinsCysCys]
CA2410958760
XM_011530690.1:c.824_825del