ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009765
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
848503
ClinVar RCV Id:
RCV001052273
RCV002339262
RCV003156307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Glu1413Gln
CA394304419
NM_001318829.2:c.4237G>C