Canonical Allele Identifier: PA2825189079
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.His399Gln
CA10324799
NM_000487.5:c.1197C>G
CA412169822
NM_000487.5:c.1197C>A