Canonical Allele Identifier: PA2828421912
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207696
ClinVar RCV Id: RCV000189951 RCV000696799 RCV002345683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ile1750Leu
CA319402
NM_001370405.1:c.5248A>C