Allele Registry

Canonical Allele Identifier: PA645413224

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000475896

RCV001012341

RCV001770354

RCV004001891

ClinVar Variation:

411218

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Asn532Tyr	CA029180 NM_000368.5:c.1594A>T