Canonical Allele Identifier: PA2829975776
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237984
ClinVar RCV Id: RCV000227175 RCV002429100
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Ile723Phe
CA10583306
NM_021055.3:c.2167A>T