Canonical Allele Identifier: PA2828420359
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65353
ClinVar RCV Id: RCV000055577 RCV000475654 RCV003162432
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro1338Leu
CA020000
NM_001370405.1:c.4013C>T