ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830237218
Gene: TTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ile18028Val
CA248764
NM_133437.4:c.54082A>G