Allele Registry

Canonical Allele Identifier: PA2829821530

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000490227

ClinVar Variation:

427030

HGVS (amino-acid)	Matching Registered Transcripts
NP_056199.2:p.Gln507His	CA359492604 NM_015384.5:c.1521A>C CA359492606 NM_015384.5:c.1521A>T