ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891861080
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001078894.2:p.Gly311Ser
NM_001085425.3:c.931G>A