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: PA2825799178

Gene: COQ8B HGNC NCBI

Linked Data

ClinVar Variation Id: 91849

ClinVar RCV Id: RCV000077757

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136027.1:p.Arg302Trp	CA145476 NM_001142555.3:c.904C>T