Allele Registry

Canonical Allele Identifier: PA2830195129

Gene: TTN HGNC NCBI

ClinVar RCV:

RCV000861804

RCV001463863

RCV002404698

ClinVar Variation:

516953

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Ala12450Glu	CA1995514 NM_133378.4:c.37349C>A