ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828090482
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238094
ClinVar RCV Id:
RCV000231955
RCV001534673
RCV002256137
RCV003998843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.His278Arg
CA10583286
NM_001363528.2:c.833A>G