ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826822225
Gene: GUSB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000360113
ClinVar Variation:
360552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280033.1:p.Ala140Ser
CA4276429
NM_001293104.2:c.418G>T