ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916064835
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467137
ClinVar RCV Id:
RCV000539660
RCV000609462
RCV003139794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ala5042Val
CA1996214
NM_133437.4:c.15125C>T