Allele Registry

Canonical Allele Identifier: PA645413196

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000469111

RCV004022869

ClinVar Variation:

411231

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Pro418His	CA16612640 NM_000368.5:c.1253C>A