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_006714530.1:p.[Lys2347Gln;Tyr2349_Phe2352delinsIleCysTrp;Met2355_Ala2359delinsSerTyrGluSerSer;Met2361_Ile2371delinsTrpTyrGluAspValLeuProGlyThrThrGly;Thr2373_Leu2375delinsGlnHisMetPro;Lys2376dup]
CA2765899864
XM_006714467.2:c.7037_7038insT