Allele Registry

Canonical Allele Identifier: PA915970729

Gene: ARSA HGNC NCBI

ClinVar Allele:

79048

ClinVar RCV:

RCV000058988

RCV001854230

ClinVar Variation:

68157

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Leu300Ser	CA219070 NM_001085427.3:c.899T>C