Allele Registry

Canonical Allele Identifier: PA2825519045

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058979

RCV000150061

ClinVar Variation:

68148

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078895.2:p.Arg246His	CA219052 NM_001085426.3:c.737G>A