Allele Registry

Canonical Allele Identifier: PA658801630

Gene: TSC1 HGNC NCBI

ClinVar Allele:

524719

ClinVar RCV:

RCV000642019

RCV001020300

RCV004003961

ClinVar Variation:

534453

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Pro1145Leu	CA037070 NM_000368.5:c.3434C>T