Canonical Allele Identifier: PA1139747232
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 907631
ClinVar RCV Id: RCV001157614

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Gln2123His
CA359504089
NM_133433.4:c.6369A>T
CA359504093
NM_133433.4:c.6369A>C