Allele Registry

Canonical Allele Identifier: PA2827016190

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042602

RCV002335678

RCV003298086

ClinVar Variation:

49342

1744965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Asn1437Lys	CA021576 NM_001318831.2:c.4311C>G CA394311454 NM_001318831.2:c.4311C>A