Allele Registry

Canonical Allele Identifier: PA2825919342

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000233178

RCV000561979

RCV001705063

RCV003996857

ClinVar Variation:

207638

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Arg1026Gln	CA319309 NM_001162426.2:c.3077G>A