ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829972594
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_066399.2:p.Glu366Gln
CA276776700
NM_021055.3:c.1096G>C