ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830221399
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191875
ClinVar RCV Id:
RCV000172231
RCV000222897
RCV000271952
RCV000277111
RCV000312262
RCV000366922
RCV000366443
RCV001085618
RCV001170784
RCV002345589
RCV004539587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg18748His
CA302430
NM_133432.3:c.56243G>A