Canonical Allele Identifier: PA2828091056
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406041
ClinVar RCV Id: RCV000470761 RCV001011130 RCV001591076 RCV004000707
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg454Ser
CA029692
NM_001363528.2:c.1362G>C
CA394323549
NM_001363528.2:c.1362G>T