Canonical Allele Identifier: PA2829439667
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_003310.4:p.Phe17917Leu
CA185794
NM_003319.4:c.53749T>C
CA349584958
NM_003319.4:c.53751T>G
CA349584959
NM_003319.4:c.53751T>A