Allele Registry

Canonical Allele Identifier: PA219071

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058988

RCV001854230

ClinVar Variation:

68157

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Leu300Ser	CA219070 NM_000487.5:c.899T>C