Allele Registry

Canonical Allele Identifier: PA115972

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003208

RCV000058959

ClinVar Variation:

3062

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Ser12Leu	CA115971 NM_001085428.3:c.34_35delinsCT