Canonical Allele Identifier: PA2573178084
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078896.2:p.His399Gln
CA10324799
NM_001085427.3:c.1197C>G
CA412169822
NM_001085427.3:c.1197C>A