Canonical Allele Identifier: PA2827001250
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406041
ClinVar RCV Id: RCV000470761 RCV001011130 RCV001591076 RCV004000707
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg417Ser
CA029692
NM_001318827.2:c.1251G>C
CA394323549
NM_001318827.2:c.1251G>T