Canonical Allele Identifier: PA2825957943
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486575
ClinVar RCV Id: RCV000564766 RCV001510606 RCV003237944
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Lys1034Glu
CA375366847
NM_001162427.2:c.3100A>G