ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830205284
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229439
ClinVar RCV Id:
RCV000217743
RCV000730718
RCV001079797
RCV001170842
RCV002408935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val12929Phe
CA1995228
NM_133378.4:c.38785G>T