ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828094593
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1400703
ClinVar RCV Id:
RCV001911450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Gln1470Arg
CA394304672
NM_001363528.2:c.4409A>G