Allele Registry

Canonical Allele Identifier: PA658659372

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000525235

RCV001010403

RCV003424114

RCV003999185

ClinVar Variation:

466012

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Leu41Phe	CA027330 NM_000368.5:c.121C>T