Allele Registry

Canonical Allele Identifier: PA2828065221

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000020322

RCV000255092

ClinVar Variation:

21187

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Asp171His	CA341708 NM_001362782.2:c.511G>C