ClinGen Allele Registry
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Canonical Allele Identifier:
PA916022972
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000231955
RCV001534673
RCV002256137
RCV003998843
ClinVar Variation:
238094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.His78Arg
CA10583286
NM_001318831.2:c.233A>G