Canonical Allele Identifier: PA115961
Gene: ARSA HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000478.3:p.Ser98Phe
NM_000487.5:c.[292dup;295C>G;302del]

NM_000487.5:c.[292dup;295C>G;304del]

NM_000487.5:c.[292dup;295C>G;304C>T;306G>...

NM_000487.5:c.293C>T