ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830197061
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467328
ClinVar RCV Id:
RCV000528644
RCV001174706
RCV004537986
RCV001703197
RCV002448714
RCV002506347
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg17257Thr
CA1992660
NM_133378.4:c.51770G>C