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: PA305450

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200761

ClinVar RCV Id: RCV001731505

ClinVar Variation Id: 1467449

ClinVar RCV Id: RCV001966378

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000229.1:p.Tyr652His	CA006090 NM_000238.4:c.1954_1956delinsCAC CA369857772 NM_000238.4:c.1954T>C