Canonical Allele Identifier: PA2825438019
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406066
ClinVar RCV Id: RCV000475183 RCV001021517 RCV001088738
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Asp1252Asn
CA049735
NM_001077183.3:c.3754G>A