Canonical Allele Identifier: PA2827015211
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41740
ClinVar RCV Id: RCV000034657 RCV000054871 RCV000566784 RCV000606975 RCV000768352 RCV001082570 RCV004534723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg1165Trp
CA020096
NM_001318831.2:c.3493C>T