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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: ARSA
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001078895.2:p.Ser98Phe
NM_001085426.3:c.[292dup;295C>G;302del]
NM_001085426.3:c.[292dup;295C>G;304del]
NM_001085426.3:c.[292dup;295C>G;304C>T;30...
NM_001085426.3:c.293C>T