Canonical Allele Identifier: PA2827006952
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1449690
ClinVar RCV Id: RCV001989753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser438Leu
CA394325613
NM_001318829.2:c.1313C>T