Canonical Allele Identifier: PA2830236218
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 178189
ClinVar RCV Id: RCV000154919 RCV000725368 RCV000768927 RCV001087044 RCV002336328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597681.4:p.Ser16295Arg
CA181717
NM_133437.4:c.48885T>G
CA349624719
NM_133437.4:c.48885T>A
CA349624741
NM_133437.4:c.48883A>C