Canonical Allele Identifier: PA2830238624
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47463
ClinVar RCV Id: RCV000040732 RCV000643680 RCV000725253 RCV001798188 RCV002354213
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597681.4:p.Ser20250Arg
CA141079
NM_133437.4:c.60748A>C
CA349536897
NM_133437.4:c.60750T>G
CA349536908
NM_133437.4:c.60750T>A