ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830241517
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196646
ClinVar RCV Id:
RCV000177489
RCV002381574
RCV002478585
RCV000643147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ser24515Asn
CA243675
NM_133437.4:c.73544G>A