Canonical Allele Identifier: PA2828093799
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64947
ClinVar RCV Id: RCV000055150 RCV001853088 RCV002371894
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro1249Ser
CA019722
NM_001363528.2:c.3745C>T