Canonical Allele Identifier: PA116000
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3087
ClinVar RCV Id: RCV000003233 RCV000020313
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Thr411Ile
CA115999
NM_000487.5:c.1232C>T