Canonical Allele Identifier: PA916022831
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238014
ClinVar RCV Id: RCV000734482 RCV001083071 RCV002258838 RCV003998821
ClinVar Variation Id: 823131
ClinVar RCV Id: RCV001019085 RCV001051568 RCV003329362
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asn984Lys
CA044699
NM_001318827.2:c.2952C>A
CA394285620
NM_001318827.2:c.2952C>G