Canonical Allele Identifier: PA2499231718
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1051583
ClinVar RCV Id: RCV001359646
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Asn716His
CA375360893
NM_000368.5:c.2146A>C