Canonical Allele Identifier: PA2830220951
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 180094
ClinVar RCV Id: RCV000156898 RCV000172243 RCV000364729 RCV000310296 RCV000313729 RCV000349857 RCV000400261 RCV000769929 RCV001086890 RCV002345526 RCV004544461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597676.3:p.Phe18042Leu
CA185794
NM_133432.3:c.54124T>C
CA349584958
NM_133432.3:c.54126T>G
CA349584959
NM_133432.3:c.54126T>A