Canonical Allele Identifier: PA2742004266
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2502713
ClinVar RCV Id: RCV003229386

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Gln738His
CA359499621
NM_133433.4:c.2214A>T
CA359499624
NM_133433.4:c.2214A>C