ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830213997
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000861804
RCV001463863
RCV002404698
ClinVar Variation:
516953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Ala6078Glu
CA1995514
NM_133432.3:c.18233C>A