Allele Registry

Canonical Allele Identifier: PA278037

Gene: ARSA HGNC NCBI

ClinVar Allele:

18116

ClinVar RCV:

RCV000003223

RCV001642197

ClinVar Variation:

3077

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Arg290Cys	CA278036 NM_000487.5:c.868C>T