This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ARSA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078897.1:p.[Val302del;Ala304_Thr307delinsLeuLeuCys;Lys309_Ser319delinsLeuGluSerThrArgLeuThrSerSerProArg;His321_Asp327delinsLeuProThrValIleProLeuGlnThrLeu;Cys330_His331delinsThr]
CA2657591104
NM_001085428.3:c.904del