ClinGen Allele Registry
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Canonical Allele Identifier:
PA139982
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47091
ClinVar RCV Id:
RCV000040361
RCV000228122
RCV000725242
RCV001170604
RCV002426581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Tyr15596His
CA139980
NM_133378.4:c.46786T>C