Allele Registry

Canonical Allele Identifier: PA915986912

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000366220

RCV001085318

RCV002446526

RCV003995780

ClinVar Variation:

287541

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Arg316Gln	CA039900 NM_001162426.2:c.947G>A