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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.[Leu277_Gln287delinsCysCysTrpAlaGlnAlaArgAlaLeuGly;Phe290_Tyr295delinsSerSerSerThrArg;Asp297_Val299delinsThrGlnThr;Gly301Ser;Val302_Phe303insGly;Ala304_Arg306delinsLeuLeuCysGly]
CA645612057
NM_001362782.2:c.829del