Allele Registry

Canonical Allele Identifier: PA1139674779

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001070860

RCV004000195

ClinVar Variation:

863806

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1444Ser	CA394301401 NM_000548.5:c.4330C>T