Allele Registry

Canonical Allele Identifier: PA915987137

Gene: TSC1 HGNC NCBI

ClinVar Allele:

524238

ClinVar RCV:

RCV000642023

RCV001771877

ClinVar Variation:

534457

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Leu10Phe	CA375375415 NM_001162427.2:c.28C>T