Canonical Allele Identifier: PA2825957169
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207636
ClinVar RCV Id: RCV000189855 RCV000558000 RCV002453702 RCV003153464
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Gln741Arg
CA319304
NM_001162427.2:c.2222A>G