Allele Registry

Canonical Allele Identifier: PA2828059335

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000808212

RCV002291701

RCV002370159

RCV002487737

ClinVar Variation:

652627

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Ser174Thr	CA375369099 NM_001362177.1:c.521G>C