Allele Registry

Canonical Allele Identifier: PA658659850

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459004

ClinVar RCV:

RCV000532264

RCV001018500

RCV001821552

ClinVar Variation:

466118

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Arg1027Trp	CA035767 NM_000368.5:c.3079C>T