Allele Registry

Canonical Allele Identifier: PA267546

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000086383

RCV002281922

ClinVar Variation:

99933

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Arg1819Gln	CA267544 NM_133433.4:c.5456G>A