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Canonical Allele Identifier: Get Identifier
Gene: ARSA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000216124.5:p.[Leu332del;Ser334_Ser335delinsGlyGln;Asp337_Leu339delinsProGly;Thr341_Leu342del;Leu345_Ala346delinsTyrPro;Ala348Ser;Leu350_Val353delinsGlyTrpGlyPro;Leu355_Ser361delinsAlaGlnCysHisLeuGlyTrpLeu]
CA2657592219
ENST00000216124.9:c.993dup