ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825435131
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535916
ClinVar RCV Id:
RCV000644146
RCV002282288
RCV002424465
RCV002483858
RCV004004001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Glu366Gln
CA276776700
NM_001077183.3:c.1096G>C