Canonical Allele Identifier: PA2827005921
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406038
ClinVar RCV Id: RCV000471856 RCV001797088 RCV002436401 RCV004533162 RCV004000706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro45Leu
CA042049
NM_001318829.2:c.134C>T