Canonical Allele Identifier: PA2828092367
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50182
ClinVar RCV Id: RCV000043451 RCV000430436 RCV001705694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro816Leu
CA017430
NM_001363528.2:c.2447C>T