Allele Registry

Canonical Allele Identifier: PA645413569

Gene: TSC1 HGNC NCBI

ClinVar Allele:

240472

ClinVar RCV:

RCV000228446

RCV001020245

RCV003998779

ClinVar Variation:

237719

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.His1139Pro	CA10582619 NM_000368.5:c.3416A>C