ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA184852
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
172666
ClinVar RCV:
RCV000156450
RCV000544571
RCV002362831
ClinVar Variation:
179654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val30248Ile
CA184850
NM_001267550.2:c.90742G>A