ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830229381
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Leu1648Phe
CA2005222
NM_133437.4:c.4942C>T