Canonical Allele Identifier: PA2827011652
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238096
ClinVar RCV Id: RCV000226468 RCV001550647 RCV002372261 RCV003317165 RCV003463661 RCV003998844 RCV004532859
ClinVar Variation Id: 2057881
ClinVar RCV Id: RCV002942108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.His107Gln
CA10583287
NM_001318831.2:c.321C>G
CA394315395
NM_001318831.2:c.321C>A