Canonical Allele Identifier: PA2827012338
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 513426
ClinVar RCV Id: RCV000644119 RCV001010952 RCV001719001 RCV004002563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu248Val
CA394322581
NM_001318831.2:c.742C>G