Canonical Allele Identifier: PA219089
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Glu314Asp
CA219088
NM_000487.5:c.942G>T
CA412174472
NM_000487.5:c.942G>C