Allele Registry

Canonical Allele Identifier: PA115963

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003202

RCV000003203

RCV000020320

RCV000657846

RCV001267385

ClinVar Variation:

3057

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Ile181Ser	CA115962 NM_000487.5:c.542T>G