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: PA2579965357

Gene: KCNQ4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1800917

ClinVar RCV Id: RCV002462514

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004691.2:p.His77Gln	CA339885311 NM_004700.4:c.231C>G CA339885312 NM_004700.4:c.231C>A