ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Gene: SF3B1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000335321.5:p.Lys666Asn
CA280929
ENST00000335508.10:c.1998G>T
CA2042625
ENST00000335508.10:c.1998G>C