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: PA193653

Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186025

ClinVar RCV Id: RCV000165545 RCV001030542 RCV001194726 RCV001850319

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114432.2:p.Leu372Ile	CA193651 NM_032043.3:c.1114C>A