Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2580507025

Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1788024

ClinVar RCV Id: RCV002428169 RCV003098735 RCV003434489

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Arg743His	CA3236146 NM_133433.4:c.2228G>A