Canonical Allele Identifier: PA2827014043
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480854
ClinVar RCV Id: RCV000563535 RCV000924510 RCV001577990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Glu729Lys
CA041991
NM_001318831.2:c.2185G>A