Allele Registry

Canonical Allele Identifier: PA272231

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000146689

RCV002247539

RCV002512579

ClinVar Variation:

159195

HGVS (amino-acid)	Matching Registered Transcripts
NP_056199.2:p.Asp2160Tyr	CA272230 NM_015384.5:c.6478G>T