ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830240312
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000119021
RCV000254991
RCV000627779
RCV000768851
RCV002250566
RCV003989320
ClinVar Variation:
132133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Cys22839Arg
CA358820
NM_133437.4:c.68515T>C