ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830195494
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282186
ClinVar RCV Id:
RCV000304864
RCV000769003
RCV001134525
RCV001134526
RCV001134528
RCV001134527
RCV001134529
RCV002418107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Glu13451Lys
CA1994922
NM_133378.4:c.40351G>A