Allele Registry

Canonical Allele Identifier: PA658659504

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000536669

RCV004024017

ClinVar Variation:

466154

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Leu250Ser	CA375369705 NM_000368.5:c.749T>C