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: PA2829445837

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 2016721

ClinVar RCV Id: RCV002851719

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003310.4:p.Thr26276Ser	CA349407201 NM_003319.4:c.78827C>G CA349407203 NM_003319.4:c.78826A>T