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) Matching Registered Transcripts
XP_016864818.1:p.His2649_Ter2650insLeuGluGlyGlnAsnGluIleGlnThrLeuArgSerTrpGlnHisArg
CA359521753
XM_017009329.1:c.7949G>T