ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576771
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
663392
ClinVar RCV Id:
RCV000821259
RCV002478922
RCV003222146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Gln1502Glu
CA394304316
NM_001114382.3:c.4504C>G