ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA102001
Gene: GUSB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000947
ClinVar Variation:
899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000172.2:p.Tyr495Cys
CA339843
NM_000181.4:c.1484A>G