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: PA2829821512

Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1706451

ClinVar RCV Id: RCV002284988

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056199.2:p.Leu471Val	CA359487301 NM_015384.5:c.1411T>G