Canonical Allele Identifier: PA2828421565
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2771708
ClinVar RCV Id: RCV003512766
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Met1672Ile
CA394312590
NM_001370405.1:c.5016G>T
CA394312593
NM_001370405.1:c.5016G>C
CA394312596
NM_001370405.1:c.5016G>A