Canonical Allele Identifier: PA2828065286
Gene: ARSA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Gly217Arg
CA412174713
NM_001362782.2:c.649G>C
CA412174715
NM_001362782.2:c.649G>A