Allele Registry

Canonical Allele Identifier: PA645413062

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000220036

RCV001041403

ClinVar Variation:

231802

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Val96Ala	CA034878 NM_000368.5:c.287T>C