Allele Registry

Canonical Allele Identifier: PA658659881

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000547456

RCV001019199

RCV003999220

ClinVar Variation:

466124

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Met1067Arg	CA375367039 NM_000368.5:c.3200T>G