Canonical Allele Identifier: PA2827006461
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238096
ClinVar Variation Id: 2057881
ClinVar RCV Id: RCV002942108

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.His258Gln
CA10583287
NM_001318829.2:c.774C>G
CA394315395
NM_001318829.2:c.774C>A