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: NIPBL
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_005248339.2:p.Arg506Ter
XM_005248282.3:c.[1515del;1517G>T;1519C>A...
XM_005248282.3:c.[1515del;1517G>T;1519C>G...
XM_005248282.3:c.1516C>T