Canonical Allele Identifier: PA2825518517
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3083
ClinVar RCV Id: RCV000003229 RCV002512051 RCV003500499
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078894.2:p.Pro379Leu
CA115995
NM_001085425.3:c.1136C>T