ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645374949
Gene: TTBK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
315992
ClinVar RCV Id:
RCV000379173
RCV000518308
RCV000658708
RCV002522789
RCV003969883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775771.3:p.Ala519Pro
CA7516869
NM_173500.4:c.1555G>C