ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830234874
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178998
ClinVar RCV Id:
RCV000155776
RCV000244691
RCV000934827
RCV001170574
RCV001288921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Thr14048Ile
CA183458
NM_133437.4:c.42143C>T