Canonical Allele Identifier: PA2499296526
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1030171
ClinVar RCV Id: RCV001331664
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Asn384Lys
CA359485418
NM_133433.4:c.1152T>G
CA359485421
NM_133433.4:c.1152T>A