ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248823
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val16457Ile
CA248822
NM_133378.4:c.49369G>A