Allele Registry

Canonical Allele Identifier: PA658681214

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477378

ClinVar RCV:

RCV000574628

RCV000706031

ClinVar Variation:

486613

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1444Ala	CA394301394 NM_000548.5:c.4330C>G