ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830233316
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040438
RCV000233759
RCV000242716
RCV000768968
RCV001082822
RCV001136053
RCV001136054
RCV001136055
RCV001136056
RCV001136057
RCV004534914
ClinVar Variation:
47168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Arg11494Gln
CA140204
NM_133437.4:c.34481G>A