Canonical Allele Identifier: PA2828065411
Gene: ARSA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.His313Gln
CA10324799
NM_001362782.2:c.939C>G
CA412169822
NM_001362782.2:c.939C>A