Canonical Allele Identifier: PA2827016283
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49456
ClinVar RCV Id: RCV000042716 RCV000233434 RCV000576072 RCV001079298 RCV004537167 RCV003153329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg1462His
CA021767
NM_001318831.2:c.4385G>A