Allele Registry

Canonical Allele Identifier: PA194465

Gene: TSC1 HGNC NCBI

ClinVar Allele:

182922

ClinVar RCV:

RCV000165896

RCV000468971

RCV001721075

RCV001818385

ClinVar Variation:

186320

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ala562Gly	CA005191 NM_000368.5:c.1685C>G