Allele Registry

Canonical Allele Identifier: PA2825957897

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000547456

RCV001019199

RCV003999220

ClinVar Variation:

466124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Met1016Arg	CA375367039 NM_001162427.2:c.3047T>G