Canonical Allele Identifier: PA2742004423
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2631111
ClinVar RCV Id: RCV003414377
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Gln1695His
CA359486671
NM_133433.4:c.5085A>C
CA359486672
NM_133433.4:c.5085A>T