Allele Registry

Canonical Allele Identifier: PA2826687702

Gene: GUSB HGNC NCBI

ClinVar RCV:

RCV000179731

RCV003129771

ClinVar Variation:

92584

HGVS (amino-acid)	Matching Registered Transcripts
NP_001271219.1:p.Asp216Asn	CA220459 NM_001284290.2:c.646G>A