Allele Registry

Canonical Allele Identifier: PA645413557

Gene: TSC1 HGNC NCBI

ClinVar Allele:

233728

ClinVar RCV:

RCV000213461

RCV000799771

RCV001562491

ClinVar Variation:

233013

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Lys1099Arg	CA10578822 NM_000368.5:c.3296A>G