Allele Registry

Canonical Allele Identifier: PA2825155119

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV001296824

RCV002357085

RCV002486131

ClinVar Variation:

1000666

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ala2Val	CA375375467 NM_000368.5:c.5C>T