Canonical Allele Identifier: PA2830207071
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 202731
ClinVar RCV Id: RCV000313228 RCV000352827 RCV000356258 RCV000396308 RCV000228391 RCV000398470 RCV000714055 RCV000764322 RCV001170369 RCV003235108 RCV002444755
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_596869.4:p.Tyr16651Phe
CA310113
NM_133378.4:c.49952A>T