Canonical Allele Identifier: PA116006
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3090
ClinVar RCV Id: RCV000003236 RCV000795605
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Thr288Pro
CA116005
NM_000487.5:c.862A>C