Allele Registry

Canonical Allele Identifier: PA116014

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003240

ClinVar Variation:

3094

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Pro427Thr	CA116013 NM_000487.5:c.1279C>A