Allele Registry

Canonical Allele Identifier: PA915986677

Gene: TSC1 HGNC NCBI

ClinVar Allele:

20143

ClinVar RCV:

RCV000005411

RCV000042336

ClinVar Variation:

5104

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Met224Arg	CA008014 NM_001162426.2:c.671T>G