Canonical Allele Identifier: PA2827020108
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 950491
ClinVar RCV Id: RCV001222211 RCV003163715 RCV004010744
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro1461Leu
CA394303002
NM_001318832.2:c.4382C>T