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: PA157326

Gene: BCOR HGNC NCBI

Linked Data

ClinVar Variation Id: 133685

ClinVar RCV Id: RCV000120213 RCV000861482 RCV001573019 RCV004019669

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116855.1:p.Ser209Leu	CA157323 NM_001123383.1:c.626C>T