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: PA207146

Gene: BCOR HGNC NCBI

Linked Data

ClinVar Variation Id: 210518

ClinVar RCV Id: RCV000193574 RCV000625946 RCV000640962 RCV001726037 RCV004553048

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116855.1:p.Val679Ile	CA207143 NM_001123383.1:c.2035G>A