ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830193590
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263795
ClinVar RCV Id:
RCV000247051
RCV000603948
RCV001406345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Leu8108Ser
CA1999665
NM_133378.4:c.24323T>C