Canonical Allele Identifier: PA915970764
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078896.2:p.Glu314Asp
CA219088
NM_001085427.3:c.942G>T
CA412174472
NM_001085427.3:c.942G>C