Canonical Allele Identifier: PA2827008994
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486637
ClinVar RCV Id: RCV000571806 RCV000706819 RCV002266988 RCV002491143 RCV004001158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg1176Cys
CA276750224
NM_001318829.2:c.3526C>T