Canonical Allele Identifier: PA2825918548
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231294
ClinVar RCV Id: RCV004525365
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Glu730Asp
CA375360639
NM_001162426.2:c.2190A>T
CA375360642
NM_001162426.2:c.2190A>C