Canonical Allele Identifier: PA2828417500
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1462576

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp514Glu
CA394326376
NM_001370405.1:c.1542C>G
CA394326378
NM_001370405.1:c.1542C>A