Canonical Allele Identifier: PA645385736
Gene: ARSA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000478.3:p.Gln141Ter
NM_000487.5:c.[419_420insC;421C>A]

NM_000487.5:c.[419_420insC;421C>G]

NM_000487.5:c.421C>T