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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_001349711.1:p.Ser12Phe
NM_001362782.2:c.[34dup;37C>G;44del]
NM_001362782.2:c.[34dup;37C>G;46del]
NM_001362782.2:c.[34dup;37C>G;46C>T;48G>C...
NM_001362782.2:c.35C>T