Allele Registry

Canonical Allele Identifier: PA2828065244

Gene: ARSA HGNC NCBI

ClinVar Allele:

789096

ClinVar RCV:

RCV001172252

ClinVar Variation:

800499

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Thr190Lys	CA412175847 NM_001362782.2:c.569C>A