Canonical Allele Identifier: PA2827015558
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 432500
ClinVar RCV Id: RCV000497607 RCV001022632 RCV001078813
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ser1263Phe
CA394302786
NM_001318831.2:c.3788C>T