Allele Registry

Canonical Allele Identifier: PA658680525

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477320

ClinVar RCV:

RCV000570261

RCV001054845

RCV004001174

ClinVar Variation:

486691

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.His385Arg	CA028650 NM_000548.5:c.1154A>G