Canonical Allele Identifier: PA2828412141
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406077
ClinVar RCV Id: RCV000460097 RCV002256248 RCV003320645 RCV003153598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg718Cys
CA036889
NM_001370404.1:c.2152C>T