Allele Registry

Canonical Allele Identifier: PA915970849

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003240

ClinVar Variation:

3094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Pro427Thr	CA116013 NM_001085427.3:c.1279C>A