Allele Registry

Canonical Allele Identifier: PA2825576180

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000227467

RCV003165607

ClinVar Variation:

238042

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Ile1334Asn	CA10583331 NM_001114382.3:c.4001T>A