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: PA194819

Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186440

ClinVar RCV Id: RCV000166032 RCV000197937 RCV000284654 RCV000410706 RCV000411705 RCV001262874

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114432.2:p.Ser624Leu	CA194817 NM_032043.3:c.1871C>T