Canonical Allele Identifier: PA196922
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187173
ClinVar RCV Id: RCV000166873 RCV000553448 RCV001762388 RCV003995539
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser315Leu
CA023151
NM_000548.5:c.944C>T