Canonical Allele Identifier: PA2827008839
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718047
ClinVar RCV Id: RCV002304844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1125Arg
CA394291960
NM_001318829.2:c.3373A>C
CA394291979
NM_001318829.2:c.3375C>A
CA394291987
NM_001318829.2:c.3375C>G