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: PA2830337505

Gene: KCNJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1806150

ClinVar RCV Id: RCV002470434

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_722451.1:p.Lys171Asn	CA383244854 NM_153767.4:c.513G>T CA383244855 NM_153767.4:c.513G>C