Allele Registry

Canonical Allele Identifier: PA2828412014

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000232288

RCV001014180

RCV003311720

RCV003998809

ClinVar Variation:

237979

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ser683Pro	CA10583302 NM_001370404.1:c.2047T>C