Allele Registry

Canonical Allele Identifier: PA645466909

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000490227

ClinVar Variation:

427030

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Gln507His	CA359492604 NM_133433.4:c.1521A>C CA359492606 NM_133433.4:c.1521A>T