Canonical Allele Identifier: PA138766
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 46615
ClinVar RCV Id: RCV000039885 RCV000172406 RCV001130571 RCV001130572 RCV001130573 RCV001130570 RCV001135657 RCV001080301 RCV003149638 RCV004541134
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001243779.1:p.Lys5121Arg
CA138763
NM_001256850.1:c.15362A>G