Canonical Allele Identifier: PA916023989
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12404
ClinVar RCV Id: RCV000482063 RCV001536008 RCV002426499 RCV000013213 RCV000042962
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Arg916Trp
CA017942
NM_001318832.2:c.2746C>T