ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826418138
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195716
ClinVar RCV Id:
RCV000176351
RCV000457092
RCV000852842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Thr16223Ala
CA242268
NM_001256850.1:c.48667A>G