Canonical Allele Identifier: PA2825188809
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Glu255Asp
CA325531461
NM_000487.5:c.765G>C
CA412176280
NM_000487.5:c.765G>T