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: PA2826051821

Gene: KCTD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 589052

ClinVar RCV Id: RCV001162663 RCV001576211 RCV002317996

ClinVar Variation Id: 1345313

ClinVar RCV Id: RCV002037197

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161433.1:p.Phe49Leu	CA4278184 NM_001167961.2:c.145T>C CA367695436 NM_001167961.2:c.147T>A CA367695437 NM_001167961.2:c.147T>G