Canonical Allele Identifier: PA2829979801
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380401
ClinVar RCV Id: RCV000441786 RCV000469602 RCV000567292 RCV001354866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Ala1230Val
CA048770
NM_021055.3:c.3689C>T