Canonical Allele Identifier: PA2827001688
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406014
ClinVar RCV Id: RCV000469836 RCV002274032 RCV001013015 RCV004000695
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg548Cys
CA033336
NM_001318827.2:c.1642C>T