Canonical Allele Identifier: PA2825518423
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078894.2:p.Lys304Asn
CA219072
NM_001085425.3:c.912G>C
CA412174684
NM_001085425.3:c.912G>T