Canonical Allele Identifier: PA2742004519
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2503138
ClinVar RCV Id: RCV003229972
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Leu2307Phe
CA359509045
NM_133433.4:c.6921G>C
CA359509046
NM_133433.4:c.6921G>T