ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA310002
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Val15442Phe
CA310001
NM_001256850.1:c.46324G>T