ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827012131
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237961
ClinVar RCV Id:
RCV000226213
RCV000568157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Glu205Gln
CA028805
NM_001318831.2:c.613G>C