Allele Registry

Canonical Allele Identifier: PA915970836

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003238

RCV001376978

ClinVar Variation:

3092

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Thr410Ile	CA116009 NM_001085427.3:c.1229C>T