Canonical Allele Identifier: PA2828421684
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517318
ClinVar RCV Id: RCV002027265

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ile1700Phe
CA394314631
NM_001370405.1:c.5098A>T