Allele Registry

Canonical Allele Identifier: PA2828060029

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000189813

RCV000574453

RCV001082340

ClinVar Variation:

207609

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Thr453Ser	CA029589 NM_001362177.1:c.1358C>G CA375363989 NM_001362177.1:c.1357A>T