ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580181739
Gene: TKT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2441997
ClinVar RCV Id:
RCV003148318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244957.1:p.Phe543Tyr
CA353230433
NM_001258028.2:c.1628T>A