Canonical Allele Identifier: PA2830219794
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47335
ClinVar RCV Id: RCV000040605 RCV000464020 RCV001093053 RCV001134503 RCV001171268 RCV001135950 RCV001134502 RCV001134504 RCV001135951 RCV001293087 RCV002336148 RCV004534928
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597676.3:p.Arg16072Trp
CA140718
NM_133432.3:c.48214C>T