ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916014194
Gene: GUSB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
188278
ClinVar RCV:
RCV000170584
RCV001283824
ClinVar Variation:
190463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001271219.1:p.Arg103Trp
CA199721
NM_001284290.2:c.307C>T