Canonical Allele Identifier: PA2830234553
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47248
ClinVar RCV Id: RCV000040518 RCV000230180 RCV000260453 RCV000275767 RCV000318112 RCV000333256 RCV000368971 RCV000621791 RCV000852821 RCV001083546 RCV001170577 RCV002221193 RCV004541169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597681.4:p.Ser13494Pro
CA140450
NM_133437.4:c.40480T>C