Canonical Allele Identifier: PA2825435626
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187099
ClinVar RCV Id: RCV000166788 RCV000536283 RCV003995532
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Ile530Val
CA015168
NM_001077183.3:c.1588A>G