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Canonical Allele Identifier: Get Identifier
Gene: ARSA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.[Asp273_Ser275delinsAlaGlnPro;Leu277_Leu279delinsAlaAla;Thr281_Ser284delinsHisArgGlnGlu;Arg286_Gln287delinsSerAlaVal;Phe290_Tyr292delinsLeuLeu;Ser294_Tyr295delinsValLeu;Asp297_Val302delinsArgArgGlyProTrpGly]
CA754068402
NM_001362782.2:c.818_819del