Allele Registry

Canonical Allele Identifier: PA645413198

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000407254

RCV000726384

RCV001010703

RCV001081666

ClinVar Variation:

237699

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Asp426Tyr	CA027960 NM_000368.5:c.1276G>T