Canonical Allele Identifier: PA215817
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41747
ClinVar RCV Id: RCV000034664 RCV000567483 RCV001088019 RCV004534725
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1790Met
CA022424
NM_000548.5:c.5368G>A