Canonical Allele Identifier: PA2828421727
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207762
ClinVar RCV Id: RCV000561869 RCV000713943 RCV001083713 RCV003996897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Glu1709Lys
CA054884
NM_001370405.1:c.5125G>A