Canonical Allele Identifier: PA115978
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3064
ClinVar RCV Id: RCV000003210 RCV000675081
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Pro138Leu
CA115977
NM_000487.5:c.413C>T