Allele Registry

Canonical Allele Identifier: PA101864

Gene: GUSB HGNC NCBI

ClinVar Allele:

15944

ClinVar RCV:

RCV000000953

RCV000586449

RCV000790722

RCV003914794

ClinVar Variation:

905

HGVS (amino-acid)	Matching Registered Transcripts
NP_000172.2:p.Leu176Phe	CA220466 NM_000181.4:c.526C>T