ClinGen Allele Registry
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Canonical Allele Identifier:
PA242251
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000176344
RCV000724526
RCV001086903
RCV001798629
RCV002426846
ClinVar Variation:
195709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg14773Gln
CA242250
NM_133378.4:c.44318G>A