Allele Registry

Canonical Allele Identifier: PA658681015

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477343

ClinVar RCV:

RCV000562552

RCV001853809

ClinVar Variation:

486673

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Lys1106Met	CA045694 NM_000548.5:c.3317A>T