Allele Registry

Canonical Allele Identifier: PA916014200

Gene: GUSB HGNC NCBI

ClinVar RCV:

RCV000550006

RCV001252504

RCV001726216

ClinVar Variation:

458510

HGVS (amino-acid)	Matching Registered Transcripts
NP_001271219.1:p.Asp152Asn	CA4276629 NM_001284290.2:c.454G>A