ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830210184
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Ala789Asp
CA238319
NM_133432.3:c.2366C>A