Allele Registry

Canonical Allele Identifier: PA891846183

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000685265

RCV001024421

ClinVar Variation:

565653

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Arg190His	CA038150 NM_000368.5:c.569G>A