ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830220718
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283297
ClinVar RCV Id:
RCV000312083
RCV000725251
RCV001088389
RCV002338833
RCV004543020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg17688Gln
CA1989421
NM_133432.3:c.53063G>A