ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830216193
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040387
RCV000768980
RCV001130203
RCV001130204
RCV001130205
RCV001130206
RCV001130207
RCV001703902
RCV002433518
ClinVar Variation:
47117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Ala10041Val
CA140053
NM_133432.3:c.30122C>T