ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830240583
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000475458
RCV000839289
RCV001130529
RCV001131256
RCV001131257
RCV001131258
RCV001131259
RCV003486846
ClinVar Variation:
404800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ile23136Arg
CA1986834
NM_133437.4:c.69407T>G