Canonical Allele Identifier: PA2573207739
Gene: ARSA HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Gly38Cys
CA325531581
NM_001362782.2:c.112G>T