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: PA2580470654

Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087963

ClinVar RCV Id: RCV003000154

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114432.2:p.Val180Leu	CA400483236 NM_032043.3:c.538G>T CA400483238 NM_032043.3:c.538G>C