Canonical Allele Identifier: PA2828417613
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467887
ClinVar RCV Id: RCV000542715 RCV002395406 RCV003314613
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp549Gly
CA394267934
NM_001370405.1:c.1646A>G