Canonical Allele Identifier: PA278426
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 93128
ClinVar RCV Id: RCV000078952 RCV000723561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Thr329Ile
CA278425
NM_000487.5:c.986C>T