Allele Registry

Canonical Allele Identifier: PA645413186

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000567359

RCV000734481

RCV001083120

RCV003902488

RCV003995989

ClinVar Variation:

378767

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Leu388Pro	CA027202 NM_000368.5:c.1163T>C