Allele Registry

Canonical Allele Identifier: PA2829982849

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042602

RCV002335678

RCV003298086

ClinVar Variation:

49342

1744965

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Asn1638Lys	CA021576 NM_021055.3:c.4914C>G CA394311454 NM_021055.3:c.4914C>A