Allele Registry

Canonical Allele Identifier: PA2825957978

Gene: TSC1 HGNC NCBI

ClinVar Allele:

233728

ClinVar RCV:

RCV000213461

RCV000799771

RCV001562491

ClinVar Variation:

233013

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Lys1048Arg	CA10578822 NM_001162427.2:c.3143A>G