Allele Registry

Canonical Allele Identifier: PA219083

Gene: ARSA HGNC NCBI

ClinVar Allele:

79054

ClinVar RCV:

RCV000058995

RCV000695949

ClinVar Variation:

68163

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Gly310Asp	CA219082 NM_000487.5:c.929G>A