Canonical Allele Identifier: PA2827007673
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380717
ClinVar RCV Id: RCV000436141 RCV001359510 RCV002429378 RCV003996049
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser667Phe
CA036848
NM_001318829.2:c.2000C>T