Allele Registry

Canonical Allele Identifier: PA2825955023

Gene: TSC1 HGNC NCBI

ClinVar Allele:

75747

ClinVar RCV:

RCV000055010

RCV002273951

ClinVar Variation:

64818

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.His130Pro	CA007715 NM_001162427.2:c.389A>C