Allele Registry

Canonical Allele Identifier: PA645413539

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000468565

RCV000815344

RCV001018981

RCV003153637

ClinVar Variation:

411214

658507

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Phe1059Leu	CA036094 NM_000368.5:c.3177C>G CA375367134 NM_000368.5:c.3177C>A CA375367142 NM_000368.5:c.3175T>C