Allele Registry

Canonical Allele Identifier: PA2828417992

Gene: TSC2 HGNC NCBI

ClinVar Allele:

50170

ClinVar RCV:

RCV000034648

RCV000054861

RCV000562486

RCV000989423

RCV004534722

ClinVar Variation:

41731

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Asp647Asn	CA016233 NM_001370405.1:c.1939G>A