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Canonical Allele Identifier: Get Identifier
Gene: ARSA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.[Val388del;Ala390_Thr393delinsLeuLeuCys;Lys395_Ser405delinsLeuGluSerThrArgLeuThrSerSerProArg;His407_Asp413delinsLeuProThrValIleProLeuGlnThrLeu;Cys416_His417delinsThr]
CA2657591104
NM_000487.5:c.1162del