ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830236535
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518969
ClinVar RCV Id:
RCV000620531
RCV000871033
RCV002066934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Leu16895Ile
CA1989796
NM_133437.4:c.50683C>A