ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA310114
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202731
ClinVar RCV Id:
RCV000313228
RCV000352827
RCV000356258
RCV000396308
RCV000228391
RCV000398470
RCV000714055
RCV000764322
RCV001170369
RCV003235108
RCV002444755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Tyr17578Phe
CA310113
NM_001256850.1:c.52733A>T