Canonical Allele Identifier: PA3057562474
Gene: ARSA HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Arg306Leu
CA10324802
NM_001362782.2:c.917G>T