Allele Registry

Canonical Allele Identifier: PA658659684

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000545216

RCV001013813

RCV003419955

RCV003999201

ClinVar Variation:

466054

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ala659Thr	CA200888114 NM_000368.5:c.1975G>A