Canonical Allele Identifier: PA262504
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49212
ClinVar RCV Id: RCV000042470 RCV000055051 RCV000589638 RCV000575144 RCV001084150 RCV001729369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala84Val
CA017545
NM_000548.5:c.251C>T