Canonical Allele Identifier: PA2827008482
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64856
ClinVar RCV Id: RCV000055056 RCV000472588 RCV001019643 RCV001545684 RCV002496735
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1002Leu
CA018808
NM_001318829.2:c.3005C>T