Allele Registry

Canonical Allele Identifier: PA319397

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189942

RCV000473026

RCV000570790

RCV003996872

RCV004537592

ClinVar Variation:

207692

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1699Met	CA053941 NM_000548.5:c.5095G>A