Allele Registry

Canonical Allele Identifier: PA278426

Gene: ARSA HGNC NCBI

ClinVar Allele:

99035

ClinVar RCV:

RCV000078952

RCV000723561

ClinVar Variation:

93128

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Thr329Ile	CA278425 NM_000487.5:c.986C>T