Canonical Allele Identifier: PA2828093788
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207749
ClinVar RCV Id: RCV000535896 RCV001021475 RCV001705074 RCV003996893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Glu1247Asp
CA049654
NM_001363528.2:c.3741G>T
CA394297301
NM_001363528.2:c.3741G>C