Allele Registry

Canonical Allele Identifier: PA262212

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042091

RCV001380989

RCV002286701

ClinVar Variation:

48842

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Leu61Pro	CA005453 NM_000368.5:c.182T>C