Allele Registry

Canonical Allele Identifier: PA2499240270

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV001296824

RCV002357085

RCV002486131

ClinVar Variation:

1000666

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Ala2Val	CA375375467 NM_001162427.2:c.5C>T