Allele Registry

Canonical Allele Identifier: PA219075

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058991

RCV000578460

ClinVar Variation:

68159

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Thr306Met	CA219074 NM_000487.5:c.917C>T