Allele Registry

Canonical Allele Identifier: PA2830206086

Gene: TTN HGNC NCBI

ClinVar RCV:

RCV000248802

RCV000643704

RCV003137865

ClinVar Variation:

264232

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Val14783Ala	CA1994068 NM_133378.4:c.44348T>C