Allele Registry

Canonical Allele Identifier: PA2825918359

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000034605

RCV000163566

RCV001083067

RCV003996171

ClinVar Variation:

41693

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Arg688His	CA005883 NM_001162426.2:c.2063G>A