Canonical Allele Identifier: PA2828094261
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238045
ClinVar RCV Id: RCV000232439 RCV000562405 RCV000502912 RCV003998827 RCV004532852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser1383Phe
CA050898
NM_001363528.2:c.4148C>T