ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970821
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001078896.2:p.Arg392Gln
NM_001085427.3:c.1175G>A