Canonical Allele Identifier: PA2827009429
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468077
ClinVar RCV Id: RCV000547245 RCV002330900 RCV003999311
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1316Leu
CA050780
NM_001318829.2:c.3947C>T