Canonical Allele Identifier: PA2828059202
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534504
ClinVar RCV Id: RCV000642080 RCV001577881 RCV002386066 RCV004003977
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg124Gln
CA038606
NM_001362177.1:c.371G>A