Canonical Allele Identifier: PA2828091001
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207713
ClinVar RCV Id: RCV000189978 RCV000572652 RCV001085727 RCV003468874
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro436Leu
CA319435
NM_001363528.2:c.1307C>T