Allele Registry

Canonical Allele Identifier: PA145854

Gene: GUSB HGNC NCBI

ClinVar RCV:

RCV000078327

RCV000394365

RCV000675829

RCV003494929

ClinVar Variation:

92588

2742036

HGVS (amino-acid)	Matching Registered Transcripts
NP_000172.2:p.Leu649Pro	CA145853 NM_000181.4:c.1946T>C CA2697557267 NM_000181.4:c.1946_1947delinsCA