Canonical Allele Identifier: PA2825439352
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49443
ClinVar RCV Id: RCV000042703 RCV003626600
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Asp1623His
CA021629
NM_001077183.3:c.4867G>C