Canonical Allele Identifier: PA645385960
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 431089
ClinVar RCV Id: RCV000496194
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Asn284Lys
CA412175583
NM_000487.5:c.852T>G
CA412175586
NM_000487.5:c.852T>A