Canonical Allele Identifier: PA2827011948
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535916
ClinVar RCV Id: RCV000644146 RCV002282288 RCV002424465 RCV002483858 RCV004004001
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Glu166Gln
CA276776700
NM_001318831.2:c.496G>C