Canonical Allele Identifier: PA2573098523
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1303846
ClinVar RCV Id: RCV001758139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Pro714Ser
CA359498701
NM_133433.4:c.2140C>T