ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3075608848
Gene: TEK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000450.3:p.Gln346Leu
CA5016114
NM_000459.5:c.1037A>T