Canonical Allele Identifier: PA219091
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68167
ClinVar RCV Id: RCV000058999 RCV000665708
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Ala316Thr
CA219090
NM_000487.5:c.946G>A