Canonical Allele Identifier: PA2825520064
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078897.1:p.Lys218Asn
CA219072
NM_001085428.3:c.654G>C
CA412174684
NM_001085428.3:c.654G>T