Allele Registry

Canonical Allele Identifier: PA2828060000

Gene: TSC1 HGNC NCBI

ClinVar Allele:

182922

ClinVar RCV:

RCV000165896

RCV000468971

RCV001721075

RCV001818385

ClinVar Variation:

186320

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Ala441Gly	CA005191 NM_001362177.1:c.1322C>G