Canonical Allele Identifier: PA2827008836
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2014219
ClinVar RCV Id: RCV002829927
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Leu1124Pro
CA394291950
NM_001318829.2:c.3371T>C
CA2580091011
NM_001318829.2:c.3371_3372delinsCT