Canonical Allele Identifier: PA341709
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 21187
ClinVar RCV Id: RCV000020322 RCV000255092
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Asp257His
CA341708
NM_000487.5:c.769G>C