Canonical Allele Identifier: PA2828421724
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 680371
ClinVar RCV Id: RCV000840146 RCV001202480 RCV002336738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Glu1709Asp
CA054895
NM_001370405.1:c.5127G>C
CA394315083
NM_001370405.1:c.5127G>T