Canonical Allele Identifier: PA2828095605
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 381472
ClinVar RCV Id: RCV000423075 RCV000531557 RCV000565678 RCV004000340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg1729His
CA055272
NM_001363528.2:c.5186G>A