Canonical Allele Identifier: PA2825188846
Gene: ARSA HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Thr276Lys
CA412175847
NM_000487.5:c.827C>A