Canonical Allele Identifier: PA2825956622
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534441
ClinVar RCV Id: RCV001013644 RCV001496179 RCV001554285
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Pro594Leu
CA375362586
NM_001162427.2:c.1781C>T