ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375013
Gene: TTBK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425066
ClinVar RCV Id:
RCV000488259
RCV000765208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775771.3:p.Lys1241Thr
CA7516505
NM_173500.4:c.3722A>C