Allele Registry

Canonical Allele Identifier: PA658801389

Gene: TSC1 HGNC NCBI

ClinVar Allele:

524238

ClinVar RCV:

RCV000642023

RCV001771877

ClinVar Variation:

534457

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Leu10Phe	CA375375415 NM_000368.5:c.28C>T