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.Arg2016Ser
CA359498365
ENST00000448238.2:c.6048A>C
CA359498368
ENST00000448238.2:c.6048A>T