Canonical Allele Identifier: PA2827012550
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1462576
ClinVar RCV Id: RCV001968545 RCV003382753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Asp314Glu
CA394326376
NM_001318831.2:c.942C>G
CA394326378
NM_001318831.2:c.942C>A