ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139744108
Gene: TEK
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001362405.1:p.Lys294Asn
NM_001375476.1:c.882G>C
NM_001375476.1:c.882G>T