Canonical Allele Identifier: PA178739
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 165978
ClinVar RCV Id: RCV000152311 RCV000643272 RCV001131770 RCV000725049 RCV001129100 RCV001131767 RCV001131768 RCV001131769 RCV002453497 RCV003149927
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001254479.2:p.Val18054Leu
CA178736
NM_001267550.2:c.54160G>C
CA349555511
NM_001267550.2:c.54160G>T