ClinGen Allele Registry
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Canonical Allele Identifier:
PA658662746
Gene: TTBK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
71891
ClinVar RCV Id:
RCV000516940
RCV001119904
RCV002054917
RCV003905032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775771.3:p.Arg1110His
CA7516595
NM_173500.4:c.3329G>A