Canonical Allele Identifier: PA2825518143
Gene: ARSA HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078894.2:p.Gly124Cys
CA325531581
NM_001085425.3:c.370G>T