Allele Registry

Canonical Allele Identifier: PA2828417799

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000245013

RCV003626612

ClinVar Variation:

256621

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.His597Gln	CA10587224 NM_001370405.1:c.1791C>G CA394272928 NM_001370405.1:c.1791C>A