ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645374972
Gene: TTBK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
315987
ClinVar RCV Id:
RCV000275220
RCV002522788
RCV003105867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775771.3:p.Pro760Ser
CA7516758
NM_173500.4:c.2278C>T