ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830211749
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467485
ClinVar RCV Id:
RCV000537759
RCV000619486
RCV000714095
RCV001193720
RCV002476170
RCV001170103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg2494Cys
CA2004773
NM_133432.3:c.7480C>T