Canonical Allele Identifier: PA2825437554
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390104
ClinVar RCV Id: RCV000438616 RCV003766401
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Pro1114Ala
CA046994
NM_001077183.3:c.3340C>G