Canonical Allele Identifier: PA2830220588
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47375
ClinVar RCV Id: RCV000040645 RCV000228748 RCV000248962 RCV000769940 RCV001132349 RCV001132348 RCV001132350 RCV001132351 RCV001132352 RCV001573281 RCV004541178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597676.3:p.Arg17500His
CA283828
NM_133432.3:c.52499G>A