Canonical Allele Identifier: PA139144
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 46762
ClinVar RCV Id: RCV000040032 RCV000172686 RCV000853460 RCV001081212 RCV001132881 RCV001132882 RCV001136308 RCV001136310 RCV001136309 RCV003149643
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001243779.1:p.Ser8223Phe
CA139141
NM_001256850.1:c.24668C>T