Canonical Allele Identifier: PA2825577122
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468118
ClinVar RCV Id: RCV000524930 RCV001023171 RCV003999320
ClinVar Variation Id: 1415786
ClinVar RCV Id: RCV001921077 RCV003167182 RCV004529046
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Thr1600Ser
CA052981
NM_001114382.3:c.4798A>T
CA394308289
NM_001114382.3:c.4799C>G