Canonical Allele Identifier: PA2829821684
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2225078
ClinVar RCV Id: RCV002722493

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Glu812Asp
CA359501228
NM_015384.5:c.2436G>C
CA359501229
NM_015384.5:c.2436G>T