Allele Registry

Canonical Allele Identifier: PA2828065292

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058991

RCV000578460

ClinVar Variation:

68159

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Thr220Met	CA219074 NM_001362782.2:c.659C>T