ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830230305
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192064
ClinVar RCV Id:
RCV000172453
RCV000412686
RCV000526576
RCV002381564
RCV002485115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Pro3190Leu
CA302537
NM_133437.4:c.9569C>T