Allele Registry

Canonical Allele Identifier: PA645413258

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000474044

RCV001013134

RCV002489077

ClinVar Variation:

411213

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Val594Glu	CA16612455 NM_000368.5:c.1781T>A