Canonical Allele Identifier: PA2828410692
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468192
ClinVar RCV Id: RCV000528235 RCV001019094 RCV001355181 RCV003999343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu309Phe
CA394315433
NM_001370404.1:c.925C>T