ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830229905
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000537759
RCV000619486
RCV000714095
RCV001170103
RCV001193720
RCV002476170
ClinVar Variation:
467485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Arg2494Cys
CA2004773
NM_133437.4:c.7480C>T