Allele Registry

Canonical Allele Identifier: PA2826822247

Gene: GUSB HGNC NCBI

ClinVar RCV:

RCV000179731

RCV003129771

ClinVar Variation:

92584

HGVS (amino-acid)	Matching Registered Transcripts
NP_001280033.1:p.Asp172Asn	CA220459 NM_001293104.2:c.514G>A