Canonical Allele Identifier: PA218989
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68116
ClinVar RCV Id: RCV000058946 RCV000150058
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Arg392Gln
CA218988
NM_000487.5:c.1175G>A