Canonical Allele Identifier: PA219047
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68145
ClinVar RCV Id: RCV000058976 RCV001380269
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Ala214Pro
CA219046
NM_000487.5:c.640G>C