ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573065200
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Arg82Trp
CA412181884
NM_001085427.3:c.244C>T