ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830196717
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467295
ClinVar RCV Id:
RCV000596680
RCV002438406
RCV000558569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ile16419Thr
CA1993148
NM_133378.4:c.49256T>C