ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830221129
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519031
ClinVar RCV Id:
RCV000618605
RCV001293051
RCV003139944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Ile18330Thr
CA1989152
NM_133432.3:c.54989T>C