Allele Registry

Canonical Allele Identifier: PA658659860

Gene: TSC1 HGNC NCBI

ClinVar Allele:

475055

ClinVar RCV:

RCV000565729

RCV000642001

RCV004001135

ClinVar Variation:

486567

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ser1038Gly	CA035829 NM_000368.5:c.3112A>G