ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830216279
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467299
ClinVar RCV Id:
RCV000549854
RCV000600882
RCV002438407
RCV000852838
RCV001281441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Val10184Ile
CA1993058
NM_133432.3:c.30550G>A