Canonical Allele Identifier: PA916023214
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467927
ClinVar RCV Id: RCV000549108 RCV001014482 RCV003459239 RCV003999266
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Lys83Arg
CA394303587
NM_001318832.2:c.248A>G