Allele Registry

Canonical Allele Identifier: PA645413442

Gene: TSC1 HGNC NCBI

ClinVar Allele:

396761

ClinVar RCV:

RCV000475479

RCV000829005

RCV001016277

ClinVar Variation:

411235

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Asn891Ser	CA16612565 NM_000368.5:c.2672A>G