ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580237489
Gene: TEK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1986336
ClinVar RCV Id:
RCV002786107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362405.1:p.Lys294Gln
CA5016037
NM_001375476.1:c.880A>C