ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208076
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_596869.4:p.Arg16790Cys
NM_133378.4:c.50368C>T