Allele Registry

Canonical Allele Identifier: PA3057503785

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV005138748

ClinVar Variation:

3662409

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Ala431Pro	CA359486350 NM_133433.4:c.1291G>C CA3054207066 NM_133433.4:c.1290_1291delinsCC