Canonical Allele Identifier: PA2828091197
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64986
ClinVar RCV Id: RCV000055190 RCV000189888 RCV002390202 RCV003480048 RCV001853090
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Glu498Lys
CA014970
NM_001363528.2:c.1492G>A