Canonical Allele Identifier: PA2825520057
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078897.1:p.Arg215Trp
CA412174765
NM_001085428.3:c.643C>T
CA2695231028
NM_001085428.3:c.642_643delinsAT