Canonical Allele Identifier: PA139814
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47030
ClinVar RCV Id: RCV000040300 RCV000184581 RCV000275689 RCV000248683 RCV000317820 RCV000330719 RCV000372520 RCV000357355 RCV000764335 RCV000560033 RCV001170837 RCV004534902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001254479.2:p.Trp16471Cys
CA139810
NM_001267550.2:c.49413G>T
CA349604648
NM_001267550.2:c.49413G>C