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Canonical Allele Identifier: Get Identifier
Gene: ARSA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078896.2:p.[Gly357_Gln373delinsValThrSerAlaProCysCysTrpAlaGlnAlaArgAlaLeuGlySerLeu;Leu375_Tyr378delinsSerSerThrArg;Ser380_Glu384delinsThrGlnThrArgSer;Arg386del]
CA1026680566
NM_001085427.3:c.1070_1073del