Canonical Allele Identifier: PA2828421705
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535883
ClinVar RCV Id: RCV000644101 RCV002334131 RCV003459535 RCV004003994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Gln1705Glu
CA394314782
NM_001370405.1:c.5113C>G