ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115975
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001078895.2:p.Ser98Leu
NM_001085426.3:c.292_293delinsCT