ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916066324
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535138
ClinVar RCV Id:
RCV000642936
RCV000828852
RCV002458072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Thr8112Ile
CA1994274
NM_133437.4:c.24335C>T