Canonical Allele Identifier: PA138845
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 46644
ClinVar RCV Id: RCV000039914 RCV000229581 RCV000246252 RCV000283432 RCV000289663 RCV000380242 RCV000340760 RCV000341928 RCV000852902 RCV001080584 RCV001170640
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_596869.4:p.Thr5015Ser
CA138843
NM_133378.4:c.15044C>G
CA349559844
NM_133378.4:c.15043A>T