Canonical Allele Identifier: PA2830218118
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47240
ClinVar RCV Id: RCV000040510 RCV000459532 RCV000619559 RCV001132756 RCV001170580 RCV001082762 RCV001132757 RCV001136161 RCV001136162 RCV001136163
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597676.3:p.Arg13291His
CA210975
NM_133432.3:c.39872G>A