Canonical Allele Identifier: PA2829822214
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 907631
ClinVar RCV Id: RCV001157614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Gln2123His
CA359504089
NM_015384.5:c.6369A>T
CA359504093
NM_015384.5:c.6369A>C