ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830214733
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229446
ClinVar RCV Id:
RCV000218703
RCV001135634
RCV001134133
RCV001135635
RCV001135633
RCV001135636
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg7436Cys
CA1994670
NM_133432.3:c.22306C>T