Allele Registry

Canonical Allele Identifier: PA264639

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76147

ClinVar RCV:

RCV000055434

RCV000989440

ClinVar Variation:

65215

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1653Pro	CA021390 NM_000548.5:c.4957T>C