Canonical Allele Identifier: PA278035
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3073
ClinVar RCV Id: RCV000003219 RCV003993733
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Arg246Cys
CA278034
NM_000487.5:c.736C>T