Allele Registry

Canonical Allele Identifier: PA115957

Gene: ARSA HGNC NCBI

ClinVar Allele:

18091

ClinVar RCV:

RCV000003195

RCV000003196

RCV000003197

RCV000020314

RCV000392246

RCV001251909

ClinVar Variation:

3052

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Pro428Leu	CA115956 NM_000487.5:c.1283C>T