ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830218191
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47245
ClinVar RCV Id:
RCV000040515
RCV000464443
RCV001703905
RCV001839672
RCV001839674
RCV001839673
RCV001839675
RCV002371844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Lys13386Arg
CA140441
NM_133432.3:c.40157A>G