Canonical Allele Identifier: PA2825918460
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231290
ClinVar RCV Id: RCV004525361
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Gln710His
CA375360969
NM_001162426.2:c.2130G>T
CA375360971
NM_001162426.2:c.2130G>C