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: PA2827240975

Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6104

ClinVar RCV Id: RCV000006478

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001311041.1:p.Phe216Ser	CA210943 NM_001324112.2:c.647T>C