Allele Registry

Canonical Allele Identifier: PA2825575169

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043140

RCV001216513

ClinVar Variation:

49874

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Leu1027Pro	CA018468 NM_001114382.3:c.3080T>C