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
ENSP00000406266.2:p.Glu48Asp
CA359474117
ENST00000448238.2:c.144A>C
CA359474120
ENST00000448238.2:c.144A>T