Canonical Allele Identifier: PA2828094678
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49794
ClinVar RCV Id: RCV000043059 RCV001054560 RCV001200217 RCV003162358
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Glu1492Lys
CA020888
NM_001363528.2:c.4474G>A