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: PA658820290

Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 540588

ClinVar RCV Id: RCV000650665 RCV001551495 RCV002270931 RCV002270930

ClinVar Variation Id: 798167

ClinVar RCV Id: RCV000981675 RCV002550565 RCV002549569 RCV003962950

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065873.2:p.Met443Leu	CA5326845 NM_020822.3:c.1327A>T CA375501845 NM_020822.3:c.1327A>C CA658797372 NM_020822.3:c.1326_1327delinsAT