Allele Registry

Canonical Allele Identifier: PA139848

Gene: TTN HGNC NCBI

ClinVar RCV:

RCV000040315

RCV000618209

RCV000726235

RCV001086999

RCV001170833

ClinVar Variation:

47045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254479.2:p.Glu16818Lys	CA139845 NM_001267550.2:c.50452G>A