ClinGen Allele Registry
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Canonical Allele Identifier:
PA139983
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_001254479.2:p.Tyr18164His
CA139980
NM_001267550.2:c.54490T>C