ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830207871
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290719
ClinVar RCV Id:
RCV000355324
RCV001134243
RCV001134245
RCV001134247
RCV001134244
RCV001134246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Thr18277Met
CA1992216
NM_133378.4:c.54830C>T