Canonical Allele Identifier: PA139929
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47075
ClinVar RCV Id: RCV000040345 RCV000276975 RCV000278213 RCV000366890 RCV000332004 RCV000372745 RCV000560612 RCV000770011 RCV001719771 RCV002426579 RCV004534907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001254479.2:p.Phe17754Leu
CA139925
NM_001267550.2:c.53260T>C
CA349565645
NM_001267550.2:c.53262T>G
CA349565647
NM_001267550.2:c.53262T>A