Canonical Allele Identifier: PA2825188701
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Gly198Arg
CA10324971
NM_000487.5:c.592G>A
CA412177388
NM_000487.5:c.592G>C