Canonical Allele Identifier: PA2828420520
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_001357334.1:p.Ser1388Leu
CA050780
NM_001370405.1:c.4163C>T