Canonical Allele Identifier: PA2830191052
Gene: TTN HGNC NCBI
ClinVar RCV:
RCV002475455
ClinVar Variation:
1807498
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_596869.4:p.Leu1590Phe
CA349461520
NM_133378.4:c.4770G>T
CA349461528
NM_133378.4:c.4770G>C