ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA140073
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47126
ClinVar RCV Id:
RCV000040396
RCV000118768
RCV000253459
RCV000467434
RCV000852835
RCV001135095
RCV001135096
RCV001135098
RCV001135097
RCV001135099
RCV001798164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Leu16628Val
CA140071
NM_133378.4:c.49882C>G