Canonical Allele Identifier: PA239392
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 193759

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Ser611Arg
CA239390
NM_133433.4:c.1833T>A
CA359495174
NM_133433.4:c.1831A>C
CA359495190
NM_133433.4:c.1833T>G