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: PA169717

Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142900

ClinVar RCV Id: RCV000132368 RCV000461152 RCV001357266 RCV001775628

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114432.2:p.Glu1022Lys	CA169715 NM_032043.3:c.3064G>A