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: PA2829445979

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47705

ClinVar RCV Id: RCV000040974

ClinVar Variation Id: 1394513

ClinVar RCV Id: RCV001884827

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003310.4:p.Thr26417Ser	CA141748 NM_003319.4:c.79250C>G CA349405236 NM_003319.4:c.79249A>T