Canonical Allele Identifier: PA2827020928
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187484
ClinVar RCV Id: RCV000167217 RCV000526320 RCV002492675
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Ile1679Ser
CA022137
NM_001318832.2:c.5036T>G