Allele Registry

Canonical Allele Identifier: PA645434819

Gene: TSC2 HGNC NCBI

ClinVar Allele:

374163

ClinVar RCV:

RCV000442144

RCV001088704

RCV002328973

ClinVar Variation:

387484

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1517Thr	CA16606959 NM_000548.5:c.4549C>A