ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375004
Gene: TTBK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
315980
ClinVar RCV Id:
RCV000303717
RCV000903326
RCV001289303
RCV002522786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775771.3:p.Thr1062Ile
CA7516634
NM_173500.4:c.3185C>T