Canonical Allele Identifier: PA116010
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3092
ClinVar RCV Id: RCV000003238 RCV001376978
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Thr410Ile
CA116009
NM_000487.5:c.1229C>T