ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA184775
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001254479.2:p.Arg16456Cys
NM_001267550.2:c.49366C>T