Canonical Allele Identifier: PA2828065220
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Asp171Glu
CA10324925
NM_001362782.2:c.513T>A
CA412176240
NM_001362782.2:c.513T>G