Canonical Allele Identifier: PA2580507042
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1902335
ClinVar RCV Id: RCV002572770
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Lys925Asn
CA359504994
NM_133433.4:c.2775G>C
CA359504995
NM_133433.4:c.2775G>T