Canonical Allele Identifier: PA2828094327
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238048
ClinVar RCV Id: RCV000226937 RCV000422566 RCV002315686 RCV003390985 RCV003998828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser1400Leu
CA051016
NM_001363528.2:c.4199C>T