Allele Registry

Canonical Allele Identifier: PA099427

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000034604

RCV000054846

RCV000186670

RCV000234486

RCV000570330

ClinVar Variation:

41692

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Gln654Glu	CA005650 NM_000368.5:c.1960C>G