ClinGen Allele Registry
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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
ENSP00000412542.2:p.Gln55Ter
ENST00000453344.6:c.[161_162insC;163C>A]
ENST00000453344.6:c.[161_162insC;163C>G]
ENST00000453344.6:c.163C>T
