Canonical Allele Identifier: PA2825185724
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_000539.2:p.Ser1217Arg
CA394291960
NM_000548.5:c.3649A>C
CA394291979
NM_000548.5:c.3651C>A
CA394291987
NM_000548.5:c.3651C>G