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
ENSP00000499536.1:p.His2649_Ter2650insCysGluGlyGlnAsnGluIleGlnThrLeuArgSerTrpGlnHisArg
CA359521757
ENST00000652901.1:c.7950A>T
CA443916385
ENST00000652901.1:c.7950A>C