Canonical Allele Identifier: PA2825520186
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078897.1:p.His313Gln
CA10324799
NM_001085428.3:c.939C>G
CA412169822
NM_001085428.3:c.939C>A