ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA310008
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Arg15594Gln
CA310007
NM_001256850.1:c.46781G>A