ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA358416
Gene: TKT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
223091
ClinVar RCV Id:
RCV000235885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128527.1:p.Arg318Cys
CA358415
NM_001135055.3:c.952C>T