Canonical Allele Identifier: PA248254
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 199181
ClinVar RCV Id: RCV000180698 RCV000300935 RCV000340586 RCV000353413 RCV000406894 RCV000401699 RCV000550205 RCV002390446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001254479.2:p.Ala483Thr
CA248252
NM_001267550.2:c.1447G>A