ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830240462
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165709
ClinVar RCV Id:
RCV000152178
RCV001131362
RCV001134360
RCV001134362
RCV001134361
RCV001134363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Arg22980Cys
CA178417
NM_133437.4:c.68938C>T