ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580536828
Gene: TTBK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775771.3:p.Glu703Lys
CA392075959
NM_173500.4:c.2107G>A