ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096429
Gene: TK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004605.4:p.Thr108Met
NM_004614.5:c.323C>T