Allele Registry

Canonical Allele Identifier: PA916043236

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042311

RCV000442086

RCV002236392

ClinVar Variation:

49058

1679947

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Arg69Pro	CA007774 NM_001362177.1:c.206G>C CA2573144299 NM_001362177.1:c.206_207delinsCT