Canonical Allele Identifier: PA2499237622
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078896.2:p.Arg301Trp
CA412174765
NM_001085427.3:c.901C>T
CA2695231028
NM_001085427.3:c.900_901delinsAT