Allele Registry

Canonical Allele Identifier: PA319311

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000233178

RCV000561979

RCV001705063

RCV003996857

ClinVar Variation:

207638

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Arg1027Gln	CA319309 NM_000368.5:c.3080G>A