Allele Registry

Canonical Allele Identifier: PA645413130

Gene: TSC1 HGNC NCBI

ClinVar Allele:

240504

ClinVar RCV:

RCV000230751

RCV001027171

RCV003237786

RCV003475059

RCV003998780

ClinVar Variation:

237726

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ser270Leu	CA10582634 NM_000368.5:c.809C>T