Canonical Allele Identifier: PA2828417550
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207718
ClinVar RCV Id: RCV000189983 RCV000802377 RCV001012313 RCV003996884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Glu532Lys
CA319449
NM_001370405.1:c.1594G>A