Canonical Allele Identifier: PA916023512
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41728
ClinVar RCV Id: RCV000034645 RCV000190067 RCV000644164 RCV002390139
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Asn497Lys
CA014912
NM_001318832.2:c.1491C>G
CA394325587
NM_001318832.2:c.1491C>A