ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830240634
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47569
ClinVar RCV Id:
RCV000040838
RCV000643268
RCV000767014
RCV004018903
RCV002504916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ala23223Thr
CA141378
NM_133437.4:c.69667G>A