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: PA213662

Gene: CYP11B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35986

ClinVar RCV Id: RCV000029643 RCV001852593 RCV002482915 RCV003460492

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000488.3:p.Pro42Leu	CA213661 NM_000497.4:c.125C>T