Canonical Allele Identifier: PA242801
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 196050
ClinVar RCV Id: RCV000176774
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Tyr1750Cys
CA242800
NM_015384.5:c.5249A>G