Canonical Allele Identifier: PA2830217594
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47208
ClinVar RCV Id: RCV000040478 RCV000172649 RCV000244887 RCV001130634 RCV001080680 RCV001170810 RCV001130633 RCV001130635 RCV001129930 RCV001129931 RCV003319176 RCV004541165
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597676.3:p.Arg12452Cys
CA140336
NM_133432.3:c.37354C>T