Allele Registry

Canonical Allele Identifier: PA2825957104

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000164860

RCV000983928

RCV003995371

ClinVar Variation:

185435

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Met720Thr	CA006280 NM_001162427.2:c.2159T>C