Allele Registry

Canonical Allele Identifier: PA645413158

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000366220

RCV001085318

RCV002446526

RCV003995780

ClinVar Variation:

287541

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Arg316Gln	CA039900 NM_000368.5:c.947G>A