ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580139035
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Ile324Phe
CA412174271
NM_001085427.3:c.970A>T