Canonical Allele Identifier: PA916023310
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238096
ClinVar RCV Id: RCV000226468 RCV001550647 RCV002372261 RCV003317165 RCV003463661 RCV003998844 RCV004532859
ClinVar Variation Id: 2057881
ClinVar RCV Id: RCV002942108
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.His318Gln
CA10583287
NM_001318832.2:c.954C>G
CA394315395
NM_001318832.2:c.954C>A