Canonical Allele Identifier: PA2828060806
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411235
ClinVar RCV Id: RCV000475479 RCV000829005 RCV001016277
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asn770Ser
CA16612565
NM_001362177.1:c.2309A>G