ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232584
Gene: TEK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000450.3:p.Arg915Cys
CA373122973
NM_000459.5:c.2743C>T