ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830217474
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202776
ClinVar RCV Id:
RCV000221791
RCV000462190
RCV000725480
RCV001170813
RCV002453682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg12253Cys
CA310252
NM_133432.3:c.36757C>T