Canonical Allele Identifier: PA2828413358
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406032
ClinVar RCV Id: RCV000458982 RCV002451088 RCV004000702 RCV004529590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1085Cys
CA16615117
NM_001370404.1:c.3253C>T