ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA138706
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46596
ClinVar RCV Id:
RCV000039866
RCV000539374
RCV001719762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Arg5000Cys
CA138702
NM_001267550.2:c.14998C>T