Allele Registry

Canonical Allele Identifier: PA645413546

Gene: TSC1 HGNC NCBI

ClinVar Allele:

396505

ClinVar RCV:

RCV000470360

RCV002307508

RCV003168847

RCV004001892

ClinVar Variation:

411222

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ala1070Val	CA16612440 NM_000368.5:c.3209C>T