Canonical Allele Identifier: PA263159
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50119
ClinVar RCV Id: RCV000043386 RCV002273946
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu733Pro
CA016906
NM_000548.5:c.2198T>C