Canonical Allele Identifier: PA2828415834
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49374
ClinVar RCV Id: RCV000042634 RCV003114223
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val1763Leu
CA022509
NM_001370404.1:c.5287G>T
CA394316312
NM_001370404.1:c.5287G>C