ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830196583
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518900
ClinVar RCV Id:
RCV000621976
RCV000764326
RCV003139941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Cys16050Arg
CA1993375
NM_133378.4:c.48148T>C