Canonical Allele Identifier: PA2827008116
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486642
ClinVar RCV Id: RCV000571394 RCV001047205 RCV004001160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro825Leu
CA276741554
NM_001318829.2:c.2474C>T