Allele Registry

Canonical Allele Identifier: PA262368

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042311

RCV000442086

RCV002236392

ClinVar Variation:

49058

1679947

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Arg190Pro	CA007774 NM_000368.5:c.569G>C CA2573144299 NM_000368.5:c.569_570delinsCT