ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA283503
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47137
ClinVar RCV Id:
RCV000040407
RCV000463384
RCV000620821
RCV000770002
RCV001129739
RCV001129741
RCV001134735
RCV000852834
RCV001129740
RCV001129742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Glu17905Gln
CA283500
NM_001256850.1:c.53713G>C