Canonical Allele Identifier: PA915986846
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207629
ClinVar RCV Id: RCV000189843 RCV000642034 RCV002372157 RCV003996855
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Thr300Ala
CA319286
NM_001162426.2:c.898A>G