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: PA2830193602

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 405095

ClinVar RCV Id: RCV000461969

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Asn8133Lys	CA1999655 NM_133378.4:c.24399C>A CA349440246 NM_133378.4:c.24399C>G