Canonical Allele Identifier: PA272184
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159168
ClinVar RCV Id: RCV000146662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Ser2013Arg
CA272183
NM_015384.5:c.6037A>C
CA359498287
NM_015384.5:c.6039C>A
CA359498288
NM_015384.5:c.6039C>G