Canonical Allele Identifier: PA2825955834
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135362
ClinVar RCV Id: RCV000122187 RCV001040743 RCV003162558 RCV003474734
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Ala377Leu
CA004602
NM_001162427.2:c.1129_1130delinsCT