ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243677
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_001254479.2:p.Ser33388Asn
CA243675
NM_001267550.2:c.100163G>A