Allele Registry

Canonical Allele Identifier: PA099478

Gene: TSC1 HGNC NCBI

ClinVar Allele:

20143

ClinVar RCV:

RCV000005411

RCV000042336

ClinVar Variation:

5104

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Met224Arg	CA008014 NM_000368.5:c.671T>G