Allele Registry

Canonical Allele Identifier: PA891857373

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV002315491

RCV003133578

ClinVar Variation:

589000

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Gln837His	CA117044760 NM_133433.4:c.2511G>C CA359501924 NM_133433.4:c.2511G>T