Canonical Allele Identifier: PA283502
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47137
ClinVar RCV Id: RCV000040407 RCV000463384 RCV000620821 RCV000770002 RCV001129739 RCV001129741 RCV001134735 RCV000852834 RCV001129740 RCV001129742
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_596869.4:p.Glu16978Gln
CA283500
NM_133378.4:c.50932G>C