ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139144
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Ser8223Phe
CA139141
NM_001256850.1:c.24668C>T