ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA140117
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47143
ClinVar RCV Id:
RCV000040413
RCV000642907
RCV002225278
RCV004541162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Gly17093Asp
CA140115
NM_133378.4:c.51278G>A