Allele Registry

Canonical Allele Identifier: PA2828065279

Gene: ARSA HGNC NCBI

ClinVar Allele:

79048

ClinVar RCV:

RCV000058988

RCV001854230

ClinVar Variation:

68157

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Leu214Ser	CA219070 NM_001362782.2:c.641T>C