ClinGen Allele Registry
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Canonical Allele Identifier:
PA916022813
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65309
ClinVar RCV Id:
RCV000055531
RCV001388145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg964Lys
CA018596
NM_001318827.2:c.2891G>A