Canonical Allele Identifier: PA243176
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 196275
ClinVar RCV Id: RCV000177069 RCV002517708
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Ala214Thr
CA243175
NM_000487.5:c.640G>A