ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830236834
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467517
ClinVar RCV Id:
RCV000594551
RCV002341356
RCV002476171
RCV000547535
RCV003330778
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ser17432Cys
CA1989553
NM_133437.4:c.52295C>G