ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764905
Gene: TTBK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775771.3:p.Arg500Leu
CA7516878
NM_173500.4:c.1499G>T