Canonical Allele Identifier: PA2828065243
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3075
ClinVar RCV Id: RCV000003221 RCV000169246 RCV000991546 RCV003904799
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Thr190Met
CA115985
NM_001362782.2:c.569C>T