Canonical Allele Identifier: PA272282
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159218
ClinVar RCV Id: RCV000146712
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Leu2342Phe
CA272281
NM_015384.5:c.7024C>T