ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645374971
Gene: TTBK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
315988
ClinVar RCV Id:
RCV000318500
RCV000960691
RCV001288858
RCV004021632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775771.3:p.Ile737Thr
CA7516766
NM_173500.4:c.2210T>C