Allele Registry

Canonical Allele Identifier: PA1139679131

Gene: ARSA HGNC NCBI

ClinVar Allele:

789096

ClinVar RCV:

RCV001172252

ClinVar Variation:

800499

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Thr276Lys	CA412175847 NM_001085427.3:c.827C>A