Allele Registry

Canonical Allele Identifier: PA146669

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000020311

RCV000078937

RCV000675747

ClinVar Variation:

21184

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Thr393Ser	CA146668 NM_000487.5:c.1178C>G CA412170049 NM_000487.5:c.1177A>T