Canonical Allele Identifier: PA2742004361
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2811273
ClinVar RCV Id: RCV003604192
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Thr1219Ile
CA359519565
NM_133433.4:c.3656C>T