Allele Registry

Canonical Allele Identifier: PA2828061177

Gene: TSC1 HGNC NCBI

ClinVar Allele:

475055

ClinVar RCV:

RCV000565729

RCV000642001

RCV004001135

ClinVar Variation:

486567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Ser917Gly	CA035829 NM_001362177.1:c.2749A>G