Canonical Allele Identifier: PA283518
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47152
ClinVar RCV Id: RCV000040422 RCV000251749 RCV000272566 RCV000287679 RCV000318624 RCV000327585 RCV000375581 RCV000993461 RCV001513456
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001243779.1:p.Pro18221Leu
CA283515
NM_001256850.1:c.54662C>T