ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830192584
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203283
ClinVar RCV Id:
RCV000727008
RCV001132030
RCV001132032
RCV001132033
RCV001132029
RCV001132031
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg5459Gln
CA311913
NM_133378.4:c.16376G>A