Allele Registry

Canonical Allele Identifier: PA2825519909

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058975

RCV000664907

ClinVar Variation:

68144

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Tyr117Cys	CA219044 NM_001085428.3:c.350A>G