Allele Registry

Canonical Allele Identifier: PA345454

Gene: GUSB HGNC NCBI

ClinVar Allele:

106587

ClinVar RCV:

RCV000087087

ClinVar Variation:

100722

HGVS (amino-acid)	Matching Registered Transcripts
NP_000172.2:p.Thr177Ile	CA345453 NM_000181.4:c.530C>T