ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA283830
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47375
ClinVar RCV Id:
RCV000040645
RCV000228748
RCV000248962
RCV000769940
RCV001132349
RCV001132348
RCV001132350
RCV001132351
RCV001132352
RCV001573281
RCV004541178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg23872His
CA283828
NM_133378.4:c.71615G>A