Canonical Allele Identifier: PA2825437791
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2016405
ClinVar RCV Id: RCV002843884
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Gln1185His
CA394292399
NM_001077183.3:c.3555G>C
CA394292405
NM_001077183.3:c.3555G>T