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: PA097787

Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6101

ClinVar RCV Id: RCV000006475 RCV001847590 RCV003750776

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004811.1:p.Ser363Phe	CA210940 NM_004820.5:c.1088C>T