Canonical Allele Identifier: PA116012
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3093
ClinVar RCV Id: RCV000003239 RCV000058989
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Cys302Phe
CA116011
NM_000487.5:c.905G>T