ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830221223
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Thr18472Lys
CA302434
NM_133432.3:c.55415C>A