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: PA645467055

Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 424011

ClinVar RCV Id: RCV000480367 RCV002525957

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Pro2321Leu	CA16618204 NM_133433.4:c.6962C>T