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: PA2829936227

Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1312869

ClinVar RCV Id: RCV001774323

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065971.2:p.Lys497Arg	CA388876449 NM_020920.4:c.1490A>G