ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830191943
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218569
ClinVar RCV Id:
RCV000203132
RCV000467493
RCV000726058
RCV001132785
RCV001132786
RCV001132787
RCV001132788
RCV001132789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Phe3694Ser
CA249334
NM_133378.4:c.11081T>C