Allele Registry

Canonical Allele Identifier: PA262176

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042047

RCV000461171

RCV001011985

ClinVar Variation:

48800

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Glu51Asp	CA005036 NM_000368.5:c.153A>C CA375375142 NM_000368.5:c.153A>T