Allele Registry

Canonical Allele Identifier: PA645413090

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000474318

RCV000571730

RCV001548481

RCV004001906

ClinVar Variation:

411271

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Val172Met	CA16612590 NM_000368.5:c.514G>A