Allele Registry

Canonical Allele Identifier: PA916023638

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000245013

RCV003626612

ClinVar Variation:

256621

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.His608Gln	CA10587224 NM_001318832.2:c.1824C>G CA394272928 NM_001318832.2:c.1824C>A