ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830219625
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518994
ClinVar RCV Id:
RCV000617816
RCV000714089
RCV002506498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg15748His
CA1990263
NM_133432.3:c.47243G>A