Canonical Allele Identifier: PA2828095349
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406050
ClinVar RCV Id: RCV000473435 RCV001023737 RCV001546269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro1671Leu
CA054450
NM_001363528.2:c.5012C>T