Allele Registry

Canonical Allele Identifier: PA215809

Gene: TSC2 HGNC NCBI

ClinVar Allele:

50178

ClinVar RCV:

RCV000034656

RCV000215282

RCV001081977

ClinVar Variation:

41739

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ala1349Val	CA019876 NM_000548.5:c.4046C>T