Allele Registry

Canonical Allele Identifier: PA2826822641

Gene: GUSB HGNC NCBI

ClinVar RCV:

RCV000078327

RCV000394365

RCV000675829

RCV003494929

ClinVar Variation:

92588

2742036

HGVS (amino-acid)	Matching Registered Transcripts
NP_001280034.1:p.Leu430Pro	CA145853 NM_001293105.2:c.1289T>C CA2697557267 NM_001293105.2:c.1289_1290delinsCA