Allele Registry

Canonical Allele Identifier: PA2827010238

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042703

RCV003626600

ClinVar Variation:

49443

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Asp1575His	CA021629 NM_001318829.2:c.4723G>C