Canonical Allele Identifier: PA2829821578
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1337519
ClinVar RCV Id: RCV001820533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Pro606Leu
CA117043675
NM_015384.5:c.1817C>T