ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830219913
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282520
ClinVar RCV Id:
RCV000322924
RCV000725106
RCV000643874
RCV002338826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Thr16283Ile
CA1990011
NM_133432.3:c.48848C>T