Allele Registry

Canonical Allele Identifier: PA2825518993

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003216

RCV000723836

ClinVar Variation:

3070

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078895.2:p.Ala214Val	CA340036 NM_001085426.3:c.641C>T