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: PA2829821712

Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2920325

ClinVar RCV Id: RCV003604598

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056199.2:p.Leu866Pro	CA3236196 NM_015384.5:c.2597T>C