Allele Registry

Canonical Allele Identifier: PA2825439328

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042603

ClinVar Variation:

49343

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ser1617Pro	CA021580 NM_001077183.3:c.4849T>C