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: PA2580507043

Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2364566

ClinVar RCV Id: RCV002984463 RCV003988075

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Ala933Gly	CA359505368 NM_133433.4:c.2798C>G