ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573177973
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Gln234Glu
CA412176698
NM_001085427.3:c.700C>G