Canonical Allele Identifier: PA2827004401
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238046
ClinVar RCV Id: RCV001082242 RCV000443899 RCV001022342
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg1348His
CA050956
NM_001318827.2:c.4043G>A