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: PA328472

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67183

ClinVar RCV Id: RCV000057890 RCV000481749 RCV001854190 RCV002381372

ClinVar Variation Id: 519399

ClinVar RCV Id: RCV000618256 RCV000631556

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742053.1:p.Phe431Leu	CA004434 NM_172056.2:c.1293C>A CA369860049 NM_172056.2:c.1293C>G CA369860054 NM_172056.2:c.1291T>C