Canonical Allele Identifier: PA2829439304
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47375
ClinVar RCV Id: RCV000040645 RCV000228748 RCV000248962 RCV000769940 RCV001132349 RCV001132348 RCV001132350 RCV001132351 RCV001132352 RCV001573281 RCV004541178
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003310.4:p.Arg17375His
CA283828
NM_003319.4:c.52124G>A