ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830218547
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228133
ClinVar RCV Id:
RCV000222805
RCV000540427
RCV001134111
RCV001134113
RCV001134110
RCV001134112
RCV001134114
RCV001311236
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Ser13991Asn
CA1991046
NM_133432.3:c.41972G>A