ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA302793
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195006
ClinVar RCV Id:
RCV000231768
RCV000259187
RCV000724743
RCV002408763
RCV001798628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Arg15484Lys
CA302790
NM_001267550.2:c.46451G>A