Canonical Allele Identifier: PA219087
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68165
ClinVar RCV Id: RCV000058997 RCV000984245
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Arg313Gln
CA219086
NM_000487.5:c.938G>A