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: PA913198824

Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 628052

ClinVar RCV Id: RCV000772349 RCV002534012

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114432.2:p.Glu179dup	CA913188881 NM_032043.3:c.536_538dup