Canonical Allele Identifier: PA915970808
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3082
ClinVar RCV Id: RCV000003228 RCV000544790
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078896.2:p.Arg372Gln
CA115993
NM_001085427.3:c.1115G>A