Canonical Allele Identifier: PA2830229493
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47210
ClinVar RCV Id: RCV000040480 RCV000172727 RCV000264307 RCV000299606 RCV000298490 RCV000358988 RCV000393329 RCV000852934 RCV001083255 RCV001798172 RCV002345308 RCV004534918
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597681.4:p.Arg1844Cys
CA140341
NM_133437.4:c.5530C>T