Canonical Allele Identifier: PA915970617
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001078896.2:p.Ser98Phe
NM_001085427.3:c.[292dup;295C>G;302del]

NM_001085427.3:c.[292dup;295C>G;304del]

NM_001085427.3:c.[292dup;295C>G;304C>T;30...

NM_001085427.3:c.293C>T