Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA891854082

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 572755

ClinVar RCV Id: RCV000694214

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Val553Leu	CA4759527 NM_017780.4:c.1657G>T CA371303824 NM_017780.4:c.1657G>C