Allele Registry

Canonical Allele Identifier: PA108012

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042751

RCV002326760

RCV003511986

ClinVar Variation:

49491

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1497Arg	CA020517 NM_000548.5:c.4490C>G