Allele Registry

Canonical Allele Identifier: PA2827006783

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042906

RCV000190056

RCV000475301

RCV004537172

ClinVar Variation:

49644

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ser379del	CA014351 NM_001318829.2:c.1136_1138del