Canonical Allele Identifier: PA2830224593
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 192140
ClinVar RCV Id: RCV000172612 RCV000220575 RCV000247259 RCV000469734 RCV000769867 RCV001133580 RCV001133581 RCV001135067 RCV001135068 RCV001135069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597676.3:p.Arg23573His
CA302598
NM_133432.3:c.70718G>A