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: PA2829821829

Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1080230

ClinVar RCV Id: RCV001395781

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056199.2:p.Pro1151Leu	CA359517915 NM_015384.5:c.3452C>T