Allele Registry

Canonical Allele Identifier: PA916043301

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000176367

RCV001852173

ClinVar Variation:

195728

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Ser995Asn	CA007333 NM_001362177.1:c.2984G>A