ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828416825
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034667
RCV001084556
RCV002257374
RCV003996175
ClinVar Variation:
41750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Arg308Gly
CA023120
NM_001370405.1:c.922C>G