ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830195012
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000528178
RCV000595875
RCV002404468
RCV003330774
ClinVar Variation:
467158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg12169His
CA1995719
NM_133378.4:c.36506G>A