ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139759
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040280
RCV000225870
RCV000254435
RCV000308756
RCV000343876
RCV000352447
RCV000392384
RCV000404240
RCV000852855
RCV001083111
RCV001798152
ClinVar Variation:
47010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg13204Gln
CA139757
NM_133378.4:c.39611G>A